SNP Links for Protein (Select 530411528) - SNP

Select item 14910240811.

rs1491024081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:74354314 (GRCh38)
17:72350454 (GRCh37)
Canonical SPDI:: NC_000017.11:74354314:C:CC
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74354315dup, NC_000017.10:g.72350454dup, NM_153209.4:c.2462dup, NM_153209.3:c.2462dup, XM_017024150.2:c.2504dup, XM_017024150.1:c.2504dup, XM_017024151.2:c.2501dup, XM_017024151.1:c.2501dup, XM_005257029.2:c.2465dup, XM_005257029.1:c.2465dup, XM_017024152.2:c.2378dup, XM_017024152.1:c.2378dup, XM_017024153.2:c.2375dup, XM_017024153.1:c.2375dup, XM_005257030.2:c.2339dup, XM_005257030.1:c.2339dup, XM_017024154.2:c.2336dup, XM_017024154.1:c.2336dup, NP_694941.2:p.Arg822fs, XP_016879639.1:p.Arg836fs, XP_016879640.1:p.Arg835fs, XP_005257086.1:p.Arg823fs, XP_016879641.1:p.Arg794fs, XP_016879642.1:p.Arg793fs, XP_005257087.1:p.Arg781fs, XP_016879643.1:p.Arg780fs

Select item 14903215932.

rs1490321593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:74354240 (GRCh38)
17:72350379 (GRCh37)
Canonical SPDI:: NC_000017.11:74354239:A:T
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74354240A>T, NC_000017.10:g.72350379A>T, NM_153209.4:c.2387A>T, NM_153209.3:c.2387A>T, XM_017024150.2:c.2429A>T, XM_017024150.1:c.2429A>T, XM_017024151.2:c.2426A>T, XM_017024151.1:c.2426A>T, XM_005257029.2:c.2390A>T, XM_005257029.1:c.2390A>T, XM_017024152.2:c.2303A>T, XM_017024152.1:c.2303A>T, XM_017024153.2:c.2300A>T, XM_017024153.1:c.2300A>T, XM_005257030.2:c.2264A>T, XM_005257030.1:c.2264A>T, XM_017024154.2:c.2261A>T, XM_017024154.1:c.2261A>T, NP_694941.2:p.Glu796Val, XP_016879639.1:p.Glu810Val, XP_016879640.1:p.Glu809Val, XP_005257086.1:p.Glu797Val, XP_016879641.1:p.Glu768Val, XP_016879642.1:p.Glu767Val, XP_005257087.1:p.Glu755Val, XP_016879643.1:p.Glu754Val

Select item 14898062003.

rs1489806200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:74349329 (GRCh38)
17:72345468 (GRCh37)
Canonical SPDI:: NC_000017.11:74349328:G:T
Gene:: KIF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74349329G>T, NC_000017.10:g.72345468G>T, NM_153209.4:c.1193G>T, NM_153209.3:c.1193G>T, XM_017024150.2:c.1232G>T, XM_017024150.1:c.1232G>T, XM_017024151.2:c.1232G>T, XM_017024151.1:c.1232G>T, XM_005257029.2:c.1193G>T, XM_005257029.1:c.1193G>T, XM_017024152.2:c.1106G>T, XM_017024152.1:c.1106G>T, XM_017024153.2:c.1106G>T, XM_017024153.1:c.1106G>T, XM_005257030.2:c.1067G>T, XM_005257030.1:c.1067G>T, XM_017024154.2:c.1067G>T, XM_017024154.1:c.1067G>T, XM_047435317.1:c.1232G>T, NP_694941.2:p.Gly398Val, XP_016879639.1:p.Gly411Val, XP_016879640.1:p.Gly411Val, XP_005257086.1:p.Gly398Val, XP_016879641.1:p.Gly369Val, XP_016879642.1:p.Gly369Val, XP_005257087.1:p.Gly356Val, XP_016879643.1:p.Gly356Val, XP_047291273.1:p.Gly411Val

Select item 14891453684.

rs1489145368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:74342634 (GRCh38)
17:72338773 (GRCh37)
Canonical SPDI:: NC_000017.11:74342633:T:C,NC_000017.11:74342633:T:G
Gene:: KIF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74342634T>C, NC_000017.11:g.74342634T>G, NC_000017.10:g.72338773T>C, NC_000017.10:g.72338773T>G, NM_153209.4:c.236T>C, NM_153209.4:c.236T>G, NM_153209.3:c.236T>C, NM_153209.3:c.236T>G, XM_017024150.2:c.236T>C, XM_017024150.2:c.236T>G, XM_017024150.1:c.236T>C, XM_017024150.1:c.236T>G, XM_017024151.2:c.236T>C, XM_017024151.2:c.236T>G, XM_017024151.1:c.236T>C, XM_017024151.1:c.236T>G, XM_005257029.2:c.236T>C, XM_005257029.2:c.236T>G, XM_005257029.1:c.236T>C, XM_005257029.1:c.236T>G, XM_017024152.2:c.236T>C, XM_017024152.2:c.236T>G, XM_017024152.1:c.236T>C, XM_017024152.1:c.236T>G, XM_017024153.2:c.236T>C, XM_017024153.2:c.236T>G, XM_017024153.1:c.236T>C, XM_017024153.1:c.236T>G, XM_005257030.2:c.236T>C, XM_005257030.2:c.236T>G, XM_005257030.1:c.236T>C, XM_005257030.1:c.236T>G, XM_017024154.2:c.236T>C, XM_017024154.2:c.236T>G, XM_017024154.1:c.236T>C, XM_017024154.1:c.236T>G, XM_047435317.1:c.236T>C, XM_047435317.1:c.236T>G, NP_694941.2:p.Met79Thr, NP_694941.2:p.Met79Arg, XP_016879639.1:p.Met79Thr, XP_016879639.1:p.Met79Arg, XP_016879640.1:p.Met79Thr, XP_016879640.1:p.Met79Arg, XP_005257086.1:p.Met79Thr, XP_005257086.1:p.Met79Arg, XP_016879641.1:p.Met79Thr, XP_016879641.1:p.Met79Arg, XP_016879642.1:p.Met79Thr, XP_016879642.1:p.Met79Arg, XP_005257087.1:p.Met79Thr, XP_005257087.1:p.Met79Arg, XP_016879643.1:p.Met79Thr, XP_016879643.1:p.Met79Arg, XP_047291273.1:p.Met79Thr, XP_047291273.1:p.Met79Arg

Select item 14881267535.

rs1488126753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74354253 (GRCh38)
17:72350392 (GRCh37)
Canonical SPDI:: NC_000017.11:74354252:G:A
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.74354253G>A, NC_000017.10:g.72350392G>A, NM_153209.4:c.2400G>A, NM_153209.3:c.2400G>A, XM_017024150.2:c.2442G>A, XM_017024150.1:c.2442G>A, XM_017024151.2:c.2439G>A, XM_017024151.1:c.2439G>A, XM_005257029.2:c.2403G>A, XM_005257029.1:c.2403G>A, XM_017024152.2:c.2316G>A, XM_017024152.1:c.2316G>A, XM_017024153.2:c.2313G>A, XM_017024153.1:c.2313G>A, XM_005257030.2:c.2277G>A, XM_005257030.1:c.2277G>A, XM_017024154.2:c.2274G>A, XM_017024154.1:c.2274G>A

Select item 14865540246.

rs1486554024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74353232 (GRCh38)
17:72349371 (GRCh37)
Canonical SPDI:: NC_000017.11:74353231:C:T
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.74353232C>T, NC_000017.10:g.72349371C>T, NM_153209.4:c.2151C>T, NM_153209.3:c.2151C>T, XM_017024150.2:c.2193C>T, XM_017024150.1:c.2193C>T, XM_017024151.2:c.2190C>T, XM_017024151.1:c.2190C>T, XM_005257029.2:c.2154C>T, XM_005257029.1:c.2154C>T, XM_017024152.2:c.2067C>T, XM_017024152.1:c.2067C>T, XM_017024153.2:c.2064C>T, XM_017024153.1:c.2064C>T, XM_005257030.2:c.2028C>T, XM_005257030.1:c.2028C>T, XM_017024154.2:c.2025C>T, XM_017024154.1:c.2025C>T

Select item 14864204767.

rs1486420476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74354351 (GRCh38)
17:72350490 (GRCh37)
Canonical SPDI:: NC_000017.11:74354350:C:T
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.74354351C>T, NC_000017.10:g.72350490C>T, NM_153209.4:c.2498C>T, NM_153209.3:c.2498C>T, XM_017024150.2:c.2540C>T, XM_017024150.1:c.2540C>T, XM_017024151.2:c.2537C>T, XM_017024151.1:c.2537C>T, XM_005257029.2:c.2501C>T, XM_005257029.1:c.2501C>T, XM_017024152.2:c.2414C>T, XM_017024152.1:c.2414C>T, XM_017024153.2:c.2411C>T, XM_017024153.1:c.2411C>T, XM_005257030.2:c.2375C>T, XM_005257030.1:c.2375C>T, XM_017024154.2:c.2372C>T, XM_017024154.1:c.2372C>T, NP_694941.2:p.Pro833Leu, XP_016879639.1:p.Pro847Leu, XP_016879640.1:p.Pro846Leu, XP_005257086.1:p.Pro834Leu, XP_016879641.1:p.Pro805Leu, XP_016879642.1:p.Pro804Leu, XP_005257087.1:p.Pro792Leu, XP_016879643.1:p.Pro791Leu

Select item 14859487938.

rs1485948793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74354355 (GRCh38)
17:72350494 (GRCh37)
Canonical SPDI:: NC_000017.11:74354354:C:T
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74354355C>T, NC_000017.10:g.72350494C>T, NM_153209.4:c.2502C>T, NM_153209.3:c.2502C>T, XM_017024150.2:c.2544C>T, XM_017024150.1:c.2544C>T, XM_017024151.2:c.2541C>T, XM_017024151.1:c.2541C>T, XM_005257029.2:c.2505C>T, XM_005257029.1:c.2505C>T, XM_017024152.2:c.2418C>T, XM_017024152.1:c.2418C>T, XM_017024153.2:c.2415C>T, XM_017024153.1:c.2415C>T, XM_005257030.2:c.2379C>T, XM_005257030.1:c.2379C>T, XM_017024154.2:c.2376C>T, XM_017024154.1:c.2376C>T

Select item 14854712499.

rs1485471249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:74344802 (GRCh38)
17:72340941 (GRCh37)
Canonical SPDI:: NC_000017.11:74344801:G:C
Gene:: KIF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.74344802G>C, NC_000017.10:g.72340941G>C, NM_153209.4:c.624G>C, NM_153209.3:c.624G>C, XM_017024150.2:c.624G>C, XM_017024150.1:c.624G>C, XM_017024151.2:c.624G>C, XM_017024151.1:c.624G>C, XM_005257029.2:c.624G>C, XM_005257029.1:c.624G>C, XM_017024152.2:c.498G>C, XM_017024152.1:c.498G>C, XM_017024153.2:c.498G>C, XM_017024153.1:c.498G>C, XM_005257030.2:c.498G>C, XM_005257030.1:c.498G>C, XM_017024154.2:c.498G>C, XM_017024154.1:c.498G>C, XM_047435317.1:c.624G>C, NP_694941.2:p.Gln208His, XP_016879639.1:p.Gln208His, XP_016879640.1:p.Gln208His, XP_005257086.1:p.Gln208His, XP_016879641.1:p.Gln166His, XP_016879642.1:p.Gln166His, XP_005257087.1:p.Gln166His, XP_016879643.1:p.Gln166His, XP_047291273.1:p.Gln208His

Select item 148486712110.

rs1484867121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74350785 (GRCh38)
17:72346924 (GRCh37)
Canonical SPDI:: NC_000017.11:74350784:C:T
Gene:: KIF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.74350785C>T, NC_000017.10:g.72346924C>T, NM_153209.4:c.1467C>T, NM_153209.3:c.1467C>T, XM_017024150.2:c.1506C>T, XM_017024150.1:c.1506C>T, XM_017024151.2:c.1506C>T, XM_017024151.1:c.1506C>T, XM_005257029.2:c.1467C>T, XM_005257029.1:c.1467C>T, XM_017024152.2:c.1380C>T, XM_017024152.1:c.1380C>T, XM_017024153.2:c.1380C>T, XM_017024153.1:c.1380C>T, XM_005257030.2:c.1341C>T, XM_005257030.1:c.1341C>T, XM_017024154.2:c.1341C>T, XM_017024154.1:c.1341C>T, XM_047435317.1:c.1506C>T

Select item 148265430211.

rs1482654302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74350465 (GRCh38)
17:72346604 (GRCh37)
Canonical SPDI:: NC_000017.11:74350464:C:T
Gene:: KIF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74350465C>T, NC_000017.10:g.72346604C>T, NM_153209.4:c.1278C>T, NM_153209.3:c.1278C>T, XM_017024150.2:c.1317C>T, XM_017024150.1:c.1317C>T, XM_017024151.2:c.1317C>T, XM_017024151.1:c.1317C>T, XM_005257029.2:c.1278C>T, XM_005257029.1:c.1278C>T, XM_017024152.2:c.1191C>T, XM_017024152.1:c.1191C>T, XM_017024153.2:c.1191C>T, XM_017024153.1:c.1191C>T, XM_005257030.2:c.1152C>T, XM_005257030.1:c.1152C>T, XM_017024154.2:c.1152C>T, XM_017024154.1:c.1152C>T, XM_047435317.1:c.1317C>T

Select item 148062861012.

rs1480628610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74350877 (GRCh38)
17:72347016 (GRCh37)
Canonical SPDI:: NC_000017.11:74350876:A:G
Gene:: KIF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.74350877A>G, NC_000017.10:g.72347016A>G, NM_153209.4:c.1559A>G, NM_153209.3:c.1559A>G, XM_017024150.2:c.1598A>G, XM_017024150.1:c.1598A>G, XM_017024151.2:c.1598A>G, XM_017024151.1:c.1598A>G, XM_005257029.2:c.1559A>G, XM_005257029.1:c.1559A>G, XM_017024152.2:c.1472A>G, XM_017024152.1:c.1472A>G, XM_017024153.2:c.1472A>G, XM_017024153.1:c.1472A>G, XM_005257030.2:c.1433A>G, XM_005257030.1:c.1433A>G, XM_017024154.2:c.1433A>G, XM_017024154.1:c.1433A>G, XM_047435317.1:c.1598A>G, NP_694941.2:p.Asp520Gly, XP_016879639.1:p.Asp533Gly, XP_016879640.1:p.Asp533Gly, XP_005257086.1:p.Asp520Gly, XP_016879641.1:p.Asp491Gly, XP_016879642.1:p.Asp491Gly, XP_005257087.1:p.Asp478Gly, XP_016879643.1:p.Asp478Gly, XP_047291273.1:p.Asp533Gly

Select item 148037912813.

rs1480379128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:74355282 (GRCh38)
17:72351421 (GRCh37)
Canonical SPDI:: NC_000017.11:74355281:T:C,NC_000017.11:74355281:T:G
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74355282T>C, NC_000017.11:g.74355282T>G, NC_000017.10:g.72351421T>C, NC_000017.10:g.72351421T>G, NM_153209.4:c.2967T>C, NM_153209.4:c.2967T>G, NM_153209.3:c.2967T>C, NM_153209.3:c.2967T>G, XM_017024150.2:c.3009T>C, XM_017024150.2:c.3009T>G, XM_017024150.1:c.3009T>C, XM_017024150.1:c.3009T>G, XM_017024151.2:c.3006T>C, XM_017024151.2:c.3006T>G, XM_017024151.1:c.3006T>C, XM_017024151.1:c.3006T>G, XM_005257029.2:c.2970T>C, XM_005257029.2:c.2970T>G, XM_005257029.1:c.2970T>C, XM_005257029.1:c.2970T>G, XM_017024152.2:c.2883T>C, XM_017024152.2:c.2883T>G, XM_017024152.1:c.2883T>C, XM_017024152.1:c.2883T>G, XM_017024153.2:c.2880T>C, XM_017024153.2:c.2880T>G, XM_017024153.1:c.2880T>C, XM_017024153.1:c.2880T>G, XM_005257030.2:c.2844T>C, XM_005257030.2:c.2844T>G, XM_005257030.1:c.2844T>C, XM_005257030.1:c.2844T>G, XM_017024154.2:c.2841T>C, XM_017024154.2:c.2841T>G, XM_017024154.1:c.2841T>C, XM_017024154.1:c.2841T>G, NP_694941.2:p.His989Gln, XP_016879639.1:p.His1003Gln, XP_016879640.1:p.His1002Gln, XP_005257086.1:p.His990Gln, XP_016879641.1:p.His961Gln, XP_016879642.1:p.His960Gln, XP_005257087.1:p.His948Gln, XP_016879643.1:p.His947Gln

Select item 147931784614.

rs1479317846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74346411 (GRCh38)
17:72342550 (GRCh37)
Canonical SPDI:: NC_000017.11:74346410:G:A
Gene:: KIF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00067/11 (TOMMO)
HGVS:: NC_000017.11:g.74346411G>A, NC_000017.10:g.72342550G>A, NM_153209.4:c.811G>A, NM_153209.3:c.811G>A, XM_017024150.2:c.811G>A, XM_017024150.1:c.811G>A, XM_017024151.2:c.811G>A, XM_017024151.1:c.811G>A, XM_005257029.2:c.811G>A, XM_005257029.1:c.811G>A, XM_017024152.2:c.685G>A, XM_017024152.1:c.685G>A, XM_017024153.2:c.685G>A, XM_017024153.1:c.685G>A, XM_005257030.2:c.685G>A, XM_005257030.1:c.685G>A, XM_017024154.2:c.685G>A, XM_017024154.1:c.685G>A, XM_047435317.1:c.811G>A, NP_694941.2:p.Ala271Thr, XP_016879639.1:p.Ala271Thr, XP_016879640.1:p.Ala271Thr, XP_005257086.1:p.Ala271Thr, XP_016879641.1:p.Ala229Thr, XP_016879642.1:p.Ala229Thr, XP_005257087.1:p.Ala229Thr, XP_016879643.1:p.Ala229Thr, XP_047291273.1:p.Ala271Thr

Select item 147893193515.

rs1478931935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:74352852 (GRCh38)
17:72348991 (GRCh37)
Canonical SPDI:: NC_000017.11:74352851:G:T
Gene:: KIF19 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74352852G>T, NC_000017.10:g.72348991G>T, NM_153209.4:c.2012G>T, NM_153209.3:c.2012G>T, XM_017024150.2:c.2054G>T, XM_017024150.1:c.2054G>T, XM_017024151.2:c.2051G>T, XM_017024151.1:c.2051G>T, XM_005257029.2:c.2015G>T, XM_005257029.1:c.2015G>T, XM_017024152.2:c.1928G>T, XM_017024152.1:c.1928G>T, XM_017024153.2:c.1925G>T, XM_017024153.1:c.1925G>T, XM_005257030.2:c.1889G>T, XM_005257030.1:c.1889G>T, XM_017024154.2:c.1886G>T, XM_017024154.1:c.1886G>T, XM_047435317.1:c.1780G>T, NP_694941.2:p.Gly671Val, XP_016879639.1:p.Gly685Val, XP_016879640.1:p.Gly684Val, XP_005257086.1:p.Gly672Val, XP_016879641.1:p.Gly643Val, XP_016879642.1:p.Gly642Val, XP_005257087.1:p.Gly630Val, XP_016879643.1:p.Gly629Val, XP_047291273.1:p.Glu594Ter

Select item 147792085216.

rs1477920852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:74352133 (GRCh38)
17:72348272 (GRCh37)
Canonical SPDI:: NC_000017.11:74352132:C:A,NC_000017.11:74352132:C:T
Gene:: KIF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74352133C>A, NC_000017.11:g.74352133C>T, NC_000017.10:g.72348272C>A, NC_000017.10:g.72348272C>T, NM_153209.4:c.1854C>A, NM_153209.4:c.1854C>T, NM_153209.3:c.1854C>A, NM_153209.3:c.1854C>T, XM_017024150.2:c.1893C>A, XM_017024150.2:c.1893C>T, XM_017024150.1:c.1893C>A, XM_017024150.1:c.1893C>T, XM_017024151.2:c.1893C>A, XM_017024151.2:c.1893C>T, XM_017024151.1:c.1893C>A, XM_017024151.1:c.1893C>T, XM_005257029.2:c.1854C>A, XM_005257029.2:c.1854C>T, XM_005257029.1:c.1854C>A, XM_005257029.1:c.1854C>T, XM_017024152.2:c.1767C>A, XM_017024152.2:c.1767C>T, XM_017024152.1:c.1767C>A, XM_017024152.1:c.1767C>T, XM_017024153.2:c.1767C>A, XM_017024153.2:c.1767C>T, XM_017024153.1:c.1767C>A, XM_017024153.1:c.1767C>T, XM_005257030.2:c.1728C>A, XM_005257030.2:c.1728C>T, XM_005257030.1:c.1728C>A, XM_005257030.1:c.1728C>T, XM_017024154.2:c.1728C>A, XM_017024154.2:c.1728C>T, XM_017024154.1:c.1728C>A, XM_017024154.1:c.1728C>T

Select item 147677704517.

rs1476777045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74352258 (GRCh38)
17:72348397 (GRCh37)
Canonical SPDI:: NC_000017.11:74352257:A:G
Gene:: KIF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74352258A>G, NC_000017.10:g.72348397A>G, NM_153209.4:c.1898A>G, NM_153209.3:c.1898A>G, XM_017024150.2:c.1940A>G, XM_017024150.1:c.1940A>G, XM_017024151.2:c.1937A>G, XM_017024151.1:c.1937A>G, XM_005257029.2:c.1901A>G, XM_005257029.1:c.1901A>G, XM_017024152.2:c.1814A>G, XM_017024152.1:c.1814A>G, XM_017024153.2:c.1811A>G, XM_017024153.1:c.1811A>G, XM_005257030.2:c.1775A>G, XM_005257030.1:c.1775A>G, XM_017024154.2:c.1772A>G, XM_017024154.1:c.1772A>G, XM_047435317.1:c.1666A>G, NP_694941.2:p.Tyr633Cys, XP_016879639.1:p.Tyr647Cys, XP_016879640.1:p.Tyr646Cys, XP_005257086.1:p.Tyr634Cys, XP_016879641.1:p.Tyr605Cys, XP_016879642.1:p.Tyr604Cys, XP_005257087.1:p.Tyr592Cys, XP_016879643.1:p.Tyr591Cys, XP_047291273.1:p.Thr556Ala

Select item 147666642418.

rs1476666424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:74347897 (GRCh38)
17:72344036 (GRCh37)
Canonical SPDI:: NC_000017.11:74347896:A:C
Gene:: KIF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74347897A>C, NC_000017.10:g.72344036A>C, NM_153209.4:c.1045A>C, NM_153209.3:c.1045A>C, XM_017024150.2:c.1084A>C, XM_017024150.1:c.1084A>C, XM_017024151.2:c.1084A>C, XM_017024151.1:c.1084A>C, XM_005257029.2:c.1045A>C, XM_005257029.1:c.1045A>C, XM_017024152.2:c.958A>C, XM_017024152.1:c.958A>C, XM_017024153.2:c.958A>C, XM_017024153.1:c.958A>C, XM_005257030.2:c.919A>C, XM_005257030.1:c.919A>C, XM_017024154.2:c.919A>C, XM_017024154.1:c.919A>C, XM_047435317.1:c.1084A>C

Select item 147600842819.

rs1476008428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:74354398 (GRCh38)
17:72350537 (GRCh37)
Canonical SPDI:: NC_000017.11:74354397:A:T
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74354398A>T, NC_000017.10:g.72350537A>T, NM_153209.4:c.2545A>T, NM_153209.3:c.2545A>T, XM_017024150.2:c.2587A>T, XM_017024150.1:c.2587A>T, XM_017024151.2:c.2584A>T, XM_017024151.1:c.2584A>T, XM_005257029.2:c.2548A>T, XM_005257029.1:c.2548A>T, XM_017024152.2:c.2461A>T, XM_017024152.1:c.2461A>T, XM_017024153.2:c.2458A>T, XM_017024153.1:c.2458A>T, XM_005257030.2:c.2422A>T, XM_005257030.1:c.2422A>T, XM_017024154.2:c.2419A>T, XM_017024154.1:c.2419A>T, NP_694941.2:p.Ser849Cys, XP_016879639.1:p.Ser863Cys, XP_016879640.1:p.Ser862Cys, XP_005257086.1:p.Ser850Cys, XP_016879641.1:p.Ser821Cys, XP_016879642.1:p.Ser820Cys, XP_005257087.1:p.Ser808Cys, XP_016879643.1:p.Ser807Cys

Select item 147580893320.

rs1475808933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:74354926 (GRCh38)
17:72351065 (GRCh37)
Canonical SPDI:: NC_000017.11:74354925:C:G
Gene:: KIF19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00006/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74354926C>G, NC_000017.10:g.72351065C>G, NM_153209.4:c.2851C>G, NM_153209.3:c.2851C>G, XM_017024150.2:c.2893C>G, XM_017024150.1:c.2893C>G, XM_017024151.2:c.2890C>G, XM_017024151.1:c.2890C>G, XM_005257029.2:c.2854C>G, XM_005257029.1:c.2854C>G, XM_017024152.2:c.2767C>G, XM_017024152.1:c.2767C>G, XM_017024153.2:c.2764C>G, XM_017024153.1:c.2764C>G, XM_005257030.2:c.2728C>G, XM_005257030.1:c.2728C>G, XM_017024154.2:c.2725C>G, XM_017024154.1:c.2725C>G, NP_694941.2:p.Pro951Ala, XP_016879639.1:p.Pro965Ala, XP_016879640.1:p.Pro964Ala, XP_005257086.1:p.Pro952Ala, XP_016879641.1:p.Pro923Ala, XP_016879642.1:p.Pro922Ala, XP_005257087.1:p.Pro910Ala, XP_016879643.1:p.Pro909Ala

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Result Filters

Clinical Significance

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Global MAF

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Items: 1 to 20 of 1159

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