SNP Links for Protein (Select 1034644017) - SNP

Links from Protein

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Select item 14899342891.

rs1489934289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:129701496 (GRCh38)
5:129037189 (GRCh37)
Canonical SPDI:: NC_000005.10:129701495:C:A
Gene:: ADAMTS19 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129701496C>A, NC_000005.9:g.129037189C>A, NM_133638.6:c.3063C>A, NM_133638.5:c.3063C>A, NM_133638.4:c.3063C>A, NM_133638.3:c.3045C>A, XM_011543249.3:c.1764C>A, XM_011543249.2:c.1764C>A, XM_011543249.1:c.1764C>A, XM_011543246.3:c.2376C>A, XM_011543246.2:c.2376C>A, XM_011543246.1:c.2376C>A, XM_017009174.2:c.2082C>A, XM_017009174.1:c.2082C>A, XM_047416883.1:c.2037C>A, XM_047416876.1:c.3108C>A, XM_047416877.1:c.3096C>A, XM_047416878.1:c.3075C>A, XM_047416879.1:c.2364C>A, XM_047416880.1:c.2343C>A, XM_047416881.1:c.2331C>A

Select item 14877709142.

rs1487770914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:129641914 (GRCh38)
5:128977607 (GRCh37)
Canonical SPDI:: NC_000005.10:129641913:C:A
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129641914C>A, NC_000005.9:g.128977607C>A, NM_133638.6:c.1826C>A, NM_133638.5:c.1826C>A, NM_133638.4:c.1826C>A, NM_133638.3:c.1808C>A, XM_011543249.3:c.494C>A, XM_011543249.2:c.494C>A, XM_011543249.1:c.494C>A, XM_011543246.3:c.1106C>A, XM_011543246.2:c.1106C>A, XM_011543246.1:c.1106C>A, XM_017009174.2:c.812C>A, XM_017009174.1:c.812C>A, XM_047416883.1:c.800C>A, XM_047416876.1:c.1838C>A, XM_047416877.1:c.1826C>A, XM_047416878.1:c.1838C>A, XM_047416879.1:c.1094C>A, XM_047416880.1:c.1106C>A, XM_047416881.1:c.1094C>A, XR_007058587.1:n.1264C>A, NP_598377.4:p.Thr609Asn, XP_011541551.1:p.Thr165Asn, XP_011541548.1:p.Thr369Asn, XP_016864663.1:p.Thr271Asn, XP_047272839.1:p.Thr267Asn, XP_047272832.1:p.Thr613Asn, XP_047272833.1:p.Thr609Asn, XP_047272834.1:p.Thr613Asn, XP_047272835.1:p.Thr365Asn, XP_047272836.1:p.Thr369Asn, XP_047272837.1:p.Thr365Asn

Select item 14873266733.

rs1487326673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129658687 (GRCh38)
5:128994380 (GRCh37)
Canonical SPDI:: NC_000005.10:129658686:G:A
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129658687G>A, NC_000005.9:g.128994380G>A, NM_133638.6:c.2375G>A, NM_133638.5:c.2375G>A, NM_133638.4:c.2375G>A, NM_133638.3:c.2357G>A, XM_011543249.3:c.1043G>A, XM_011543249.2:c.1043G>A, XM_011543249.1:c.1043G>A, XM_011543246.3:c.1655G>A, XM_011543246.2:c.1655G>A, XM_011543246.1:c.1655G>A, XM_017009174.2:c.1361G>A, XM_017009174.1:c.1361G>A, XM_047416883.1:c.1349G>A, XM_047416876.1:c.2387G>A, XM_047416877.1:c.2375G>A, XM_047416878.1:c.2387G>A, XM_047416879.1:c.1643G>A, XM_047416880.1:c.1655G>A, XM_047416881.1:c.1643G>A, XR_007058587.1:n.1813G>A, NP_598377.4:p.Gly792Glu, XP_011541551.1:p.Gly348Glu, XP_011541548.1:p.Gly552Glu, XP_016864663.1:p.Gly454Glu, XP_047272839.1:p.Gly450Glu, XP_047272832.1:p.Gly796Glu, XP_047272833.1:p.Gly792Glu, XP_047272834.1:p.Gly796Glu, XP_047272835.1:p.Gly548Glu, XP_047272836.1:p.Gly552Glu, XP_047272837.1:p.Gly548Glu

Select item 14855655464.

rs1485565546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:129701528 (GRCh38)
5:129037221 (GRCh37)
Canonical SPDI:: NC_000005.10:129701527:C:G
Gene:: ADAMTS19 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.129701528C>G, NC_000005.9:g.129037221C>G, NM_133638.6:c.3095C>G, NM_133638.5:c.3095C>G, NM_133638.4:c.3095C>G, NM_133638.3:c.3077C>G, XM_011543249.3:c.1796C>G, XM_011543249.2:c.1796C>G, XM_011543249.1:c.1796C>G, XM_011543246.3:c.2408C>G, XM_011543246.2:c.2408C>G, XM_011543246.1:c.2408C>G, XM_017009174.2:c.2114C>G, XM_017009174.1:c.2114C>G, XM_047416883.1:c.2069C>G, XM_047416876.1:c.3140C>G, XM_047416877.1:c.3128C>G, XM_047416878.1:c.3107C>G, XM_047416879.1:c.2396C>G, XM_047416880.1:c.2375C>G, XM_047416881.1:c.2363C>G, NP_598377.4:p.Ala1032Gly, XP_011541551.1:p.Ala599Gly, XP_011541548.1:p.Ala803Gly, XP_016864663.1:p.Ala705Gly, XP_047272839.1:p.Ala690Gly, XP_047272832.1:p.Ala1047Gly, XP_047272833.1:p.Ala1043Gly, XP_047272834.1:p.Ala1036Gly, XP_047272835.1:p.Ala799Gly, XP_047272836.1:p.Ala792Gly, XP_047272837.1:p.Ala788Gly

Select item 14832018545.

rs1483201854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129648879 (GRCh38)
5:128984572 (GRCh37)
Canonical SPDI:: NC_000005.10:129648878:G:A
Gene:: ADAMTS19 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.129648879G>A, NC_000005.9:g.128984572G>A, NM_133638.6:c.2085G>A, NM_133638.5:c.2085G>A, NM_133638.4:c.2085G>A, NM_133638.3:c.2067G>A, XM_011543249.3:c.753G>A, XM_011543249.2:c.753G>A, XM_011543249.1:c.753G>A, XM_011543246.3:c.1365G>A, XM_011543246.2:c.1365G>A, XM_011543246.1:c.1365G>A, XM_017009174.2:c.1071G>A, XM_017009174.1:c.1071G>A, XM_047416883.1:c.1059G>A, XM_047416876.1:c.2097G>A, XM_047416877.1:c.2085G>A, XM_047416878.1:c.2097G>A, XM_047416879.1:c.1353G>A, XM_047416880.1:c.1365G>A, XM_047416881.1:c.1353G>A, XR_007058587.1:n.1523G>A

Select item 14830897826.

rs1483089782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:129596646 (GRCh38)
5:128932339 (GRCh37)
Canonical SPDI:: NC_000005.10:129596645:C:G,NC_000005.10:129596645:C:T
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129596646C>G, NC_000005.10:g.129596646C>T, NC_000005.9:g.128932339C>G, NC_000005.9:g.128932339C>T, NM_133638.6:c.1460C>G, NM_133638.6:c.1460C>T, NM_133638.5:c.1460C>G, NM_133638.5:c.1460C>T, NM_133638.4:c.1460C>G, NM_133638.4:c.1460C>T, NM_133638.3:c.1442C>G, NM_133638.3:c.1442C>T, XM_011543249.3:c.116C>G, XM_011543249.3:c.116C>T, XM_011543249.2:c.116C>G, XM_011543249.2:c.116C>T, XM_011543249.1:c.116C>G, XM_011543249.1:c.116C>T, XM_011543246.3:c.728C>G, XM_011543246.3:c.728C>T, XM_011543246.2:c.728C>G, XM_011543246.2:c.728C>T, XM_011543246.1:c.728C>G, XM_011543246.1:c.728C>T, XM_017009174.2:c.434C>G, XM_017009174.2:c.434C>T, XM_017009174.1:c.434C>G, XM_017009174.1:c.434C>T, XM_047416883.1:c.434C>G, XM_047416883.1:c.434C>T, XM_047416876.1:c.1460C>G, XM_047416876.1:c.1460C>T, XM_047416877.1:c.1460C>G, XM_047416877.1:c.1460C>T, XM_047416878.1:c.1460C>G, XM_047416878.1:c.1460C>T, XM_047416879.1:c.728C>G, XM_047416879.1:c.728C>T, XM_047416880.1:c.728C>G, XM_047416880.1:c.728C>T, XM_047416881.1:c.728C>G, XM_047416881.1:c.728C>T, XR_007058587.1:n.898C>G, XR_007058587.1:n.898C>T, NP_598377.4:p.Ala487Gly, NP_598377.4:p.Ala487Val, XP_011541551.1:p.Ala39Gly, XP_011541551.1:p.Ala39Val, XP_011541548.1:p.Ala243Gly, XP_011541548.1:p.Ala243Val, XP_016864663.1:p.Ala145Gly, XP_016864663.1:p.Ala145Val, XP_047272839.1:p.Ala145Gly, XP_047272839.1:p.Ala145Val, XP_047272832.1:p.Ala487Gly, XP_047272832.1:p.Ala487Val, XP_047272833.1:p.Ala487Gly, XP_047272833.1:p.Ala487Val, XP_047272834.1:p.Ala487Gly, XP_047272834.1:p.Ala487Val, XP_047272835.1:p.Ala243Gly, XP_047272835.1:p.Ala243Val, XP_047272836.1:p.Ala243Gly, XP_047272836.1:p.Ala243Val, XP_047272837.1:p.Ala243Gly, XP_047272837.1:p.Ala243Val

Select item 14826628407.

rs1482662840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:129704279 (GRCh38)
5:129039972 (GRCh37)
Canonical SPDI:: NC_000005.10:129704278:T:G
Gene:: ADAMTS19 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.129704279T>G, NC_000005.9:g.129039972T>G, NM_133638.6:c.3200T>G, NM_133638.5:c.3200T>G, NM_133638.4:c.3200T>G, NM_133638.3:c.3182T>G, XM_011543249.3:c.1901T>G, XM_011543249.2:c.1901T>G, XM_011543249.1:c.1901T>G, XM_011543246.3:c.2513T>G, XM_011543246.2:c.2513T>G, XM_011543246.1:c.2513T>G, XM_017009174.2:c.2219T>G, XM_017009174.1:c.2219T>G, XM_047416883.1:c.2174T>G, XM_047416876.1:c.3245T>G, XM_047416877.1:c.3233T>G, XM_047416878.1:c.3212T>G, XM_047416879.1:c.2501T>G, XM_047416880.1:c.2480T>G, XM_047416881.1:c.2468T>G, NP_598377.4:p.Val1067Gly, XP_011541551.1:p.Val634Gly, XP_011541548.1:p.Val838Gly, XP_016864663.1:p.Val740Gly, XP_047272839.1:p.Val725Gly, XP_047272832.1:p.Val1082Gly, XP_047272833.1:p.Val1078Gly, XP_047272834.1:p.Val1071Gly, XP_047272835.1:p.Val834Gly, XP_047272836.1:p.Val827Gly, XP_047272837.1:p.Val823Gly

Select item 14816736978.

rs1481673697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:129704247 (GRCh38)
5:129039940 (GRCh37)
Canonical SPDI:: NC_000005.10:129704246:C:G
Gene:: ADAMTS19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.129704247C>G, NC_000005.9:g.129039940C>G, NM_133638.6:c.3168C>G, NM_133638.5:c.3168C>G, NM_133638.4:c.3168C>G, NM_133638.3:c.3150C>G, XM_011543249.3:c.1869C>G, XM_011543249.2:c.1869C>G, XM_011543249.1:c.1869C>G, XM_011543246.3:c.2481C>G, XM_011543246.2:c.2481C>G, XM_011543246.1:c.2481C>G, XM_017009174.2:c.2187C>G, XM_017009174.1:c.2187C>G, XM_047416883.1:c.2142C>G, XM_047416876.1:c.3213C>G, XM_047416877.1:c.3201C>G, XM_047416878.1:c.3180C>G, XM_047416879.1:c.2469C>G, XM_047416880.1:c.2448C>G, XM_047416881.1:c.2436C>G

Select item 14806397159.

rs1480639715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:129647822 (GRCh38)
5:128983515 (GRCh37)
Canonical SPDI:: NC_000005.10:129647821:G:C
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.129647822G>C, NC_000005.9:g.128983515G>C, NM_133638.6:c.1930G>C, NM_133638.5:c.1930G>C, NM_133638.4:c.1930G>C, NM_133638.3:c.1912G>C, XM_011543249.3:c.598G>C, XM_011543249.2:c.598G>C, XM_011543249.1:c.598G>C, XM_011543246.3:c.1210G>C, XM_011543246.2:c.1210G>C, XM_011543246.1:c.1210G>C, XM_017009174.2:c.916G>C, XM_017009174.1:c.916G>C, XM_047416883.1:c.904G>C, XM_047416876.1:c.1942G>C, XM_047416877.1:c.1930G>C, XM_047416878.1:c.1942G>C, XM_047416879.1:c.1198G>C, XM_047416880.1:c.1210G>C, XM_047416881.1:c.1198G>C, XR_007058587.1:n.1368G>C, NP_598377.4:p.Glu644Gln, XP_011541551.1:p.Glu200Gln, XP_011541548.1:p.Glu404Gln, XP_016864663.1:p.Glu306Gln, XP_047272839.1:p.Glu302Gln, XP_047272832.1:p.Glu648Gln, XP_047272833.1:p.Glu644Gln, XP_047272834.1:p.Glu648Gln, XP_047272835.1:p.Glu400Gln, XP_047272836.1:p.Glu404Gln, XP_047272837.1:p.Glu400Gln

Select item 147990639910.

rs1479906399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:129701460 (GRCh38)
5:129037153 (GRCh37)
Canonical SPDI:: NC_000005.10:129701459:T:G
Gene:: ADAMTS19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129701460T>G, NC_000005.9:g.129037153T>G, NM_133638.6:c.3027T>G, NM_133638.5:c.3027T>G, NM_133638.4:c.3027T>G, NM_133638.3:c.3009T>G, XM_011543249.3:c.1728T>G, XM_011543249.2:c.1728T>G, XM_011543249.1:c.1728T>G, XM_011543246.3:c.2340T>G, XM_011543246.2:c.2340T>G, XM_011543246.1:c.2340T>G, XM_017009174.2:c.2046T>G, XM_017009174.1:c.2046T>G, XM_047416883.1:c.2001T>G, XM_047416876.1:c.3072T>G, XM_047416877.1:c.3060T>G, XM_047416878.1:c.3039T>G, XM_047416879.1:c.2328T>G, XM_047416880.1:c.2307T>G, XM_047416881.1:c.2295T>G, NP_598377.4:p.Cys1009Trp, XP_011541551.1:p.Cys576Trp, XP_011541548.1:p.Cys780Trp, XP_016864663.1:p.Cys682Trp, XP_047272839.1:p.Cys667Trp, XP_047272832.1:p.Cys1024Trp, XP_047272833.1:p.Cys1020Trp, XP_047272834.1:p.Cys1013Trp, XP_047272835.1:p.Cys776Trp, XP_047272836.1:p.Cys769Trp, XP_047272837.1:p.Cys765Trp

Select item 147929520711.

rs1479295207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:129528581 (GRCh38)
5:128864274 (GRCh37)
Canonical SPDI:: NC_000005.10:129528580:A:G
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129528581A>G, NC_000005.9:g.128864274A>G, NM_133638.6:c.1232A>G, NM_133638.5:c.1232A>G, NM_133638.4:c.1232A>G, NM_133638.3:c.1214A>G, XM_011543246.3:c.500A>G, XM_011543246.2:c.500A>G, XM_011543246.1:c.500A>G, XM_017009174.2:c.206A>G, XM_017009174.1:c.206A>G, XM_047416883.1:c.206A>G, XM_047416876.1:c.1232A>G, XM_047416877.1:c.1232A>G, XM_047416878.1:c.1232A>G, XM_047416879.1:c.500A>G, XM_047416880.1:c.500A>G, XM_047416881.1:c.500A>G, XR_007058587.1:n.670A>G, NP_598377.4:p.His411Arg, XP_011541548.1:p.His167Arg, XP_016864663.1:p.His69Arg, XP_047272839.1:p.His69Arg, XP_047272832.1:p.His411Arg, XP_047272833.1:p.His411Arg, XP_047272834.1:p.His411Arg, XP_047272835.1:p.His167Arg, XP_047272836.1:p.His167Arg, XP_047272837.1:p.His167Arg

Select item 147834803312.

rs1478348033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 5:129679782 (GRCh38)
5:129015475 (GRCh37)
Canonical SPDI:: NC_000005.10:129679779:CAAACA:CA
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129679782_129679785del, NC_000005.9:g.129015475_129015478del, NM_133638.6:c.2525_2528del, NM_133638.5:c.2525_2528del, NM_133638.4:c.2525_2528del, NM_133638.3:c.2507_2510del, XM_011543249.3:c.1226_1229del, XM_011543249.2:c.1226_1229del, XM_011543249.1:c.1226_1229del, XM_011543246.3:c.1838_1841del, XM_011543246.2:c.1838_1841del, XM_011543246.1:c.1838_1841del, XM_017009174.2:c.1544_1547del, XM_017009174.1:c.1544_1547del, XM_047416883.1:c.1499_1502del, XM_047416876.1:c.2570_2573del, XM_047416877.1:c.2558_2561del, XM_047416878.1:c.2537_2540del, XM_047416879.1:c.1826_1829del, XM_047416880.1:c.1805_1808del, XM_047416881.1:c.1793_1796del, XR_007058587.1:n.1963_1966del, NP_598377.4:p.Lys842fs, XP_011541551.1:p.Lys409fs, XP_011541548.1:p.Lys613fs, XP_016864663.1:p.Lys515fs, XP_047272839.1:p.Lys500fs, XP_047272832.1:p.Lys857fs, XP_047272833.1:p.Lys853fs, XP_047272834.1:p.Lys846fs, XP_047272835.1:p.Lys609fs, XP_047272836.1:p.Lys602fs, XP_047272837.1:p.Lys598fs

Select item 147734171613.

rs1477341716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:129528671 (GRCh38)
5:128864364 (GRCh37)
Canonical SPDI:: NC_000005.10:129528670:T:C
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.129528671T>C, NC_000005.9:g.128864364T>C, NM_133638.6:c.1322T>C, NM_133638.5:c.1322T>C, NM_133638.4:c.1322T>C, NM_133638.3:c.1304T>C, XM_011543246.3:c.590T>C, XM_011543246.2:c.590T>C, XM_011543246.1:c.590T>C, XM_017009174.2:c.296T>C, XM_017009174.1:c.296T>C, XM_047416883.1:c.296T>C, XM_047416876.1:c.1322T>C, XM_047416877.1:c.1322T>C, XM_047416878.1:c.1322T>C, XM_047416879.1:c.590T>C, XM_047416880.1:c.590T>C, XM_047416881.1:c.590T>C, XR_007058587.1:n.760T>C, NP_598377.4:p.Ile441Thr, XP_011541548.1:p.Ile197Thr, XP_016864663.1:p.Ile99Thr, XP_047272839.1:p.Ile99Thr, XP_047272832.1:p.Ile441Thr, XP_047272833.1:p.Ile441Thr, XP_047272834.1:p.Ile441Thr, XP_047272835.1:p.Ile197Thr, XP_047272836.1:p.Ile197Thr, XP_047272837.1:p.Ile197Thr

Select item 147657712714.

rs1476577127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:129684203 (GRCh38)
5:129019896 (GRCh37)
Canonical SPDI:: NC_000005.10:129684202:T:C
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129684203T>C, NC_000005.9:g.129019896T>C, NM_133638.6:c.2748T>C, NM_133638.5:c.2748T>C, NM_133638.4:c.2748T>C, NM_133638.3:c.2730T>C, XM_011543249.3:c.1449T>C, XM_011543249.2:c.1449T>C, XM_011543249.1:c.1449T>C, XM_011543246.3:c.2061T>C, XM_011543246.2:c.2061T>C, XM_011543246.1:c.2061T>C, XM_017009174.2:c.1767T>C, XM_017009174.1:c.1767T>C, XM_047416883.1:c.1722T>C, XM_047416876.1:c.2793T>C, XM_047416877.1:c.2781T>C, XM_047416878.1:c.2760T>C, XM_047416879.1:c.2049T>C, XM_047416880.1:c.2028T>C, XM_047416881.1:c.2016T>C, XR_007058587.1:n.2186T>C

Select item 147605386315.

rs1476053863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:129704337 (GRCh38)
5:129040030 (GRCh37)
Canonical SPDI:: NC_000005.10:129704336:A:C,NC_000005.10:129704336:A:T
Gene:: ADAMTS19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.129704337A>C, NC_000005.10:g.129704337A>T, NC_000005.9:g.129040030A>C, NC_000005.9:g.129040030A>T, NM_133638.6:c.3258A>C, NM_133638.6:c.3258A>T, NM_133638.5:c.3258A>C, NM_133638.5:c.3258A>T, NM_133638.4:c.3258A>C, NM_133638.4:c.3258A>T, NM_133638.3:c.3240A>C, NM_133638.3:c.3240A>T, XM_011543249.3:c.1959A>C, XM_011543249.3:c.1959A>T, XM_011543249.2:c.1959A>C, XM_011543249.2:c.1959A>T, XM_011543249.1:c.1959A>C, XM_011543249.1:c.1959A>T, XM_011543246.3:c.2571A>C, XM_011543246.3:c.2571A>T, XM_011543246.2:c.2571A>C, XM_011543246.2:c.2571A>T, XM_011543246.1:c.2571A>C, XM_011543246.1:c.2571A>T, XM_017009174.2:c.2277A>C, XM_017009174.2:c.2277A>T, XM_017009174.1:c.2277A>C, XM_017009174.1:c.2277A>T, XM_047416883.1:c.2232A>C, XM_047416883.1:c.2232A>T, XM_047416876.1:c.3303A>C, XM_047416876.1:c.3303A>T, XM_047416877.1:c.3291A>C, XM_047416877.1:c.3291A>T, XM_047416878.1:c.3270A>C, XM_047416878.1:c.3270A>T, XM_047416879.1:c.2559A>C, XM_047416879.1:c.2559A>T, XM_047416880.1:c.2538A>C, XM_047416880.1:c.2538A>T, XM_047416881.1:c.2526A>C, XM_047416881.1:c.2526A>T, NP_598377.4:p.Glu1086Asp, NP_598377.4:p.Glu1086Asp, XP_011541551.1:p.Glu653Asp, XP_011541551.1:p.Glu653Asp, XP_011541548.1:p.Glu857Asp, XP_011541548.1:p.Glu857Asp, XP_016864663.1:p.Glu759Asp, XP_016864663.1:p.Glu759Asp, XP_047272839.1:p.Glu744Asp, XP_047272839.1:p.Glu744Asp, XP_047272832.1:p.Glu1101Asp, XP_047272832.1:p.Glu1101Asp, XP_047272833.1:p.Glu1097Asp, XP_047272833.1:p.Glu1097Asp, XP_047272834.1:p.Glu1090Asp, XP_047272834.1:p.Glu1090Asp, XP_047272835.1:p.Glu853Asp, XP_047272835.1:p.Glu853Asp, XP_047272836.1:p.Glu846Asp, XP_047272836.1:p.Glu846Asp, XP_047272837.1:p.Glu842Asp, XP_047272837.1:p.Glu842Asp

Select item 147579406016.

rs1475794060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:129737179 (GRCh38)
5:129072872 (GRCh37)
Canonical SPDI:: NC_000005.10:129737178:C:T
Gene:: ADAMTS19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129737179C>T, NC_000005.9:g.129072872C>T, NM_133638.6:c.3603C>T, NM_133638.5:c.3603C>T, NM_133638.4:c.3603C>T, NM_133638.3:c.3585C>T, XM_011543249.3:c.2304C>T, XM_011543249.2:c.2304C>T, XM_011543249.1:c.2304C>T, XM_011543246.3:c.2916C>T, XM_011543246.2:c.2916C>T, XM_011543246.1:c.2916C>T, XM_017009174.2:c.2622C>T, XM_017009174.1:c.2622C>T, XM_047416883.1:c.2577C>T, XM_047416876.1:c.3648C>T, XM_047416877.1:c.3636C>T, XM_047416878.1:c.3615C>T, XM_047416879.1:c.2904C>T, XM_047416880.1:c.2883C>T, XM_047416881.1:c.2871C>T

Select item 147507200017.

rs1475072000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:129701464 (GRCh38)
5:129037157 (GRCh37)
Canonical SPDI:: NC_000005.10:129701463:C:T
Gene:: ADAMTS19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129701464C>T, NC_000005.9:g.129037157C>T, NM_133638.6:c.3031C>T, NM_133638.5:c.3031C>T, NM_133638.4:c.3031C>T, NM_133638.3:c.3013C>T, XM_011543249.3:c.1732C>T, XM_011543249.2:c.1732C>T, XM_011543249.1:c.1732C>T, XM_011543246.3:c.2344C>T, XM_011543246.2:c.2344C>T, XM_011543246.1:c.2344C>T, XM_017009174.2:c.2050C>T, XM_017009174.1:c.2050C>T, XM_047416883.1:c.2005C>T, XM_047416876.1:c.3076C>T, XM_047416877.1:c.3064C>T, XM_047416878.1:c.3043C>T, XM_047416879.1:c.2332C>T, XM_047416880.1:c.2311C>T, XM_047416881.1:c.2299C>T, NP_598377.4:p.Gln1011Ter, XP_011541551.1:p.Gln578Ter, XP_011541548.1:p.Gln782Ter, XP_016864663.1:p.Gln684Ter, XP_047272839.1:p.Gln669Ter, XP_047272832.1:p.Gln1026Ter, XP_047272833.1:p.Gln1022Ter, XP_047272834.1:p.Gln1015Ter, XP_047272835.1:p.Gln778Ter, XP_047272836.1:p.Gln771Ter, XP_047272837.1:p.Gln767Ter

Select item 147409600218.

rs1474096002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:129684270 (GRCh38)
5:129019963 (GRCh37)
Canonical SPDI:: NC_000005.10:129684269:G:A,NC_000005.10:129684269:G:C
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.129684270G>A, NC_000005.10:g.129684270G>C, NC_000005.9:g.129019963G>A, NC_000005.9:g.129019963G>C, NM_133638.6:c.2815G>A, NM_133638.6:c.2815G>C, NM_133638.5:c.2815G>A, NM_133638.5:c.2815G>C, NM_133638.4:c.2815G>A, NM_133638.4:c.2815G>C, NM_133638.3:c.2797G>A, NM_133638.3:c.2797G>C, XM_011543249.3:c.1516G>A, XM_011543249.3:c.1516G>C, XM_011543249.2:c.1516G>A, XM_011543249.2:c.1516G>C, XM_011543249.1:c.1516G>A, XM_011543249.1:c.1516G>C, XM_011543246.3:c.2128G>A, XM_011543246.3:c.2128G>C, XM_011543246.2:c.2128G>A, XM_011543246.2:c.2128G>C, XM_011543246.1:c.2128G>A, XM_011543246.1:c.2128G>C, XM_017009174.2:c.1834G>A, XM_017009174.2:c.1834G>C, XM_017009174.1:c.1834G>A, XM_017009174.1:c.1834G>C, XM_047416883.1:c.1789G>A, XM_047416883.1:c.1789G>C, XM_047416876.1:c.2860G>A, XM_047416876.1:c.2860G>C, XM_047416877.1:c.2848G>A, XM_047416877.1:c.2848G>C, XM_047416878.1:c.2827G>A, XM_047416878.1:c.2827G>C, XM_047416879.1:c.2116G>A, XM_047416879.1:c.2116G>C, XM_047416880.1:c.2095G>A, XM_047416880.1:c.2095G>C, XM_047416881.1:c.2083G>A, XM_047416881.1:c.2083G>C, XR_007058587.1:n.2253G>A, XR_007058587.1:n.2253G>C, NP_598377.4:p.Gly939Arg, NP_598377.4:p.Gly939Arg, XP_011541551.1:p.Gly506Arg, XP_011541551.1:p.Gly506Arg, XP_011541548.1:p.Gly710Arg, XP_011541548.1:p.Gly710Arg, XP_016864663.1:p.Gly612Arg, XP_016864663.1:p.Gly612Arg, XP_047272839.1:p.Gly597Arg, XP_047272839.1:p.Gly597Arg, XP_047272832.1:p.Gly954Arg, XP_047272832.1:p.Gly954Arg, XP_047272833.1:p.Gly950Arg, XP_047272833.1:p.Gly950Arg, XP_047272834.1:p.Gly943Arg, XP_047272834.1:p.Gly943Arg, XP_047272835.1:p.Gly706Arg, XP_047272835.1:p.Gly706Arg, XP_047272836.1:p.Gly699Arg, XP_047272836.1:p.Gly699Arg, XP_047272837.1:p.Gly695Arg, XP_047272837.1:p.Gly695Arg

Select item 147292895719.

rs1472928957 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAA>- [Show Flanks]
Chromosome:: 5:129734953 (GRCh38)
5:129070646 (GRCh37)
Canonical SPDI:: NC_000005.10:129734950:AAGGAA:AA
Gene:: ADAMTS19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129734953_129734956del, NC_000005.9:g.129070646_129070649del, NM_133638.6:c.3334_3337del, NM_133638.5:c.3334_3337del, NM_133638.4:c.3334_3337del, NM_133638.3:c.3316_3319del, XM_011543249.3:c.2035_2038del, XM_011543249.2:c.2035_2038del, XM_011543249.1:c.2035_2038del, XM_011543246.3:c.2647_2650del, XM_011543246.2:c.2647_2650del, XM_011543246.1:c.2647_2650del, XM_017009174.2:c.2353_2356del, XM_017009174.1:c.2353_2356del, XM_047416883.1:c.2308_2311del, XM_047416876.1:c.3379_3382del, XM_047416877.1:c.3367_3370del, XM_047416878.1:c.3346_3349del, XM_047416879.1:c.2635_2638del, XM_047416880.1:c.2614_2617del, XM_047416881.1:c.2602_2605del, NP_598377.4:p.Gly1112fs, XP_011541551.1:p.Gly679fs, XP_011541548.1:p.Gly883fs, XP_016864663.1:p.Gly785fs, XP_047272839.1:p.Gly770fs, XP_047272832.1:p.Gly1127fs, XP_047272833.1:p.Gly1123fs, XP_047272834.1:p.Gly1116fs, XP_047272835.1:p.Gly879fs, XP_047272836.1:p.Gly872fs, XP_047272837.1:p.Gly868fs

Select item 147107038220.

rs1471070382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:129620662 (GRCh38)
5:128956355 (GRCh37)
Canonical SPDI:: NC_000005.10:129620661:G:A,NC_000005.10:129620661:G:C
Gene:: ADAMTS19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.129620662G>A, NC_000005.10:g.129620662G>C, NC_000005.9:g.128956355G>A, NC_000005.9:g.128956355G>C, NM_133638.6:c.1523G>A, NM_133638.6:c.1523G>C, NM_133638.5:c.1523G>A, NM_133638.5:c.1523G>C, NM_133638.4:c.1523G>A, NM_133638.4:c.1523G>C, NM_133638.3:c.1505G>A, NM_133638.3:c.1505G>C, XM_011543249.3:c.179G>A, XM_011543249.3:c.179G>C, XM_011543249.2:c.179G>A, XM_011543249.2:c.179G>C, XM_011543249.1:c.179G>A, XM_011543249.1:c.179G>C, XM_011543246.3:c.791G>A, XM_011543246.3:c.791G>C, XM_011543246.2:c.791G>A, XM_011543246.2:c.791G>C, XM_011543246.1:c.791G>A, XM_011543246.1:c.791G>C, XM_017009174.2:c.497G>A, XM_017009174.2:c.497G>C, XM_017009174.1:c.497G>A, XM_017009174.1:c.497G>C, XM_047416883.1:c.497G>A, XM_047416883.1:c.497G>C, XM_047416876.1:c.1523G>A, XM_047416876.1:c.1523G>C, XM_047416877.1:c.1523G>A, XM_047416877.1:c.1523G>C, XM_047416878.1:c.1523G>A, XM_047416878.1:c.1523G>C, XM_047416879.1:c.791G>A, XM_047416879.1:c.791G>C, XM_047416880.1:c.791G>A, XM_047416880.1:c.791G>C, XM_047416881.1:c.791G>A, XM_047416881.1:c.791G>C, XR_007058587.1:n.961G>A, XR_007058587.1:n.961G>C, NP_598377.4:p.Gly508Asp, NP_598377.4:p.Gly508Ala, XP_011541551.1:p.Gly60Asp, XP_011541551.1:p.Gly60Ala, XP_011541548.1:p.Gly264Asp, XP_011541548.1:p.Gly264Ala, XP_016864663.1:p.Gly166Asp, XP_016864663.1:p.Gly166Ala, XP_047272839.1:p.Gly166Asp, XP_047272839.1:p.Gly166Ala, XP_047272832.1:p.Gly508Asp, XP_047272832.1:p.Gly508Ala, XP_047272833.1:p.Gly508Asp, XP_047272833.1:p.Gly508Ala, XP_047272834.1:p.Gly508Asp, XP_047272834.1:p.Gly508Ala, XP_047272835.1:p.Gly264Asp, XP_047272835.1:p.Gly264Ala, XP_047272836.1:p.Gly264Asp, XP_047272836.1:p.Gly264Ala, XP_047272837.1:p.Gly264Asp, XP_047272837.1:p.Gly264Ala

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