SNP Links for Protein (Select 93141047) - SNP

Select item 14908190541.

rs1490819054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75134732 (GRCh38)
6:75844448 (GRCh37)
Canonical SPDI:: NC_000006.12:75134731:T:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.75134732T>C, NC_000006.11:g.75844448T>C, NG_042181.1:g.76176A>G, NM_004370.6:c.5518A>G, NM_004370.5:c.5518A>G, NM_080645.3:c.2026A>G, NM_080645.2:c.2026A>G, XM_017010252.3:c.5482A>G, XM_017010252.2:c.5482A>G, XM_017010252.1:c.5482A>G, XM_011535436.3:c.2026A>G, XM_011535436.2:c.2026A>G, XM_011535436.1:c.2026A>G, XM_011535434.2:c.5518A>G, XM_011535434.1:c.5518A>G, XM_011535435.2:c.5245A>G, XM_011535435.1:c.5245A>G, XM_047418185.1:c.5245A>G, XM_047418184.1:c.5518A>G, XM_047418186.1:c.2026A>G, NP_004361.3:p.Lys1840Glu, NP_542376.2:p.Lys676Glu, XP_016865741.1:p.Lys1828Glu, XP_011533738.1:p.Lys676Glu, XP_011533736.1:p.Lys1840Glu, XP_011533737.1:p.Lys1749Glu, XP_047274141.1:p.Lys1749Glu, XP_047274140.1:p.Lys1840Glu, XP_047274142.1:p.Lys676Glu

Select item 14907983162.

rs1490798316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75143356 (GRCh38)
6:75853072 (GRCh37)
Canonical SPDI:: NC_000006.12:75143355:T:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75143356T>C, NC_000006.11:g.75853072T>C, NG_042181.1:g.67552A>G, NM_004370.6:c.4723A>G, NM_004370.5:c.4723A>G, NM_080645.3:c.1231A>G, NM_080645.2:c.1231A>G, XM_017010252.3:c.4687A>G, XM_017010252.2:c.4687A>G, XM_017010252.1:c.4687A>G, XM_011535436.3:c.1231A>G, XM_011535436.2:c.1231A>G, XM_011535436.1:c.1231A>G, XM_011535434.2:c.4723A>G, XM_011535434.1:c.4723A>G, XM_011535435.2:c.4450A>G, XM_011535435.1:c.4450A>G, XM_047418185.1:c.4450A>G, XM_047418184.1:c.4723A>G, XM_047418186.1:c.1231A>G, NP_004361.3:p.Arg1575Gly, NP_542376.2:p.Arg411Gly, XP_016865741.1:p.Arg1563Gly, XP_011533738.1:p.Arg411Gly, XP_011533736.1:p.Arg1575Gly, XP_011533737.1:p.Arg1484Gly, XP_047274141.1:p.Arg1484Gly, XP_047274140.1:p.Arg1575Gly, XP_047274142.1:p.Arg411Gly

Select item 14905893263.

rs1490589326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75181135 (GRCh38)
6:75890851 (GRCh37)
Canonical SPDI:: NC_000006.12:75181134:T:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75181135T>C, NC_000006.11:g.75890851T>C, NG_042181.1:g.29773A>G, NM_004370.6:c.1968A>G, NM_004370.5:c.1968A>G, XM_017010252.3:c.1932A>G, XM_017010252.2:c.1932A>G, XM_017010252.1:c.1932A>G, XM_011535434.2:c.1968A>G, XM_011535434.1:c.1968A>G, XM_011535435.2:c.1968A>G, XM_011535435.1:c.1968A>G, XM_047418185.1:c.1968A>G, XM_047418184.1:c.1968A>G

Select item 14895411214.

rs1489541121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75151990 (GRCh38)
6:75861706 (GRCh37)
Canonical SPDI:: NC_000006.12:75151989:G:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75151990G>C, NC_000006.11:g.75861706G>C, NG_042181.1:g.58918C>G, NM_004370.6:c.3877C>G, NM_004370.5:c.3877C>G, NM_080645.3:c.385C>G, NM_080645.2:c.385C>G, XM_017010252.3:c.3841C>G, XM_017010252.2:c.3841C>G, XM_017010252.1:c.3841C>G, XM_011535436.3:c.385C>G, XM_011535436.2:c.385C>G, XM_011535436.1:c.385C>G, XM_011535434.2:c.3877C>G, XM_011535434.1:c.3877C>G, XM_011535435.2:c.3604C>G, XM_011535435.1:c.3604C>G, XM_047418185.1:c.3604C>G, XM_047418184.1:c.3877C>G, XM_047418186.1:c.385C>G, NP_004361.3:p.Gln1293Glu, NP_542376.2:p.Gln129Glu, XP_016865741.1:p.Gln1281Glu, XP_011533738.1:p.Gln129Glu, XP_011533736.1:p.Gln1293Glu, XP_011533737.1:p.Gln1202Glu, XP_047274141.1:p.Gln1202Glu, XP_047274140.1:p.Gln1293Glu, XP_047274142.1:p.Gln129Glu

Select item 14894231715.

rs1489423171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75175260 (GRCh38)
6:75884976 (GRCh37)
Canonical SPDI:: NC_000006.12:75175259:T:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
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_000006.12:g.75175260T>C, NC_000006.11:g.75884976T>C, NG_042181.1:g.35648A>G, NM_004370.6:c.2488A>G, NM_004370.5:c.2488A>G, XM_017010252.3:c.2452A>G, XM_017010252.2:c.2452A>G, XM_017010252.1:c.2452A>G, XM_011535434.2:c.2488A>G, XM_011535434.1:c.2488A>G, XM_047418184.1:c.2488A>G, NP_004361.3:p.Met830Val, XP_016865741.1:p.Met818Val, XP_011533736.1:p.Met830Val, XP_047274140.1:p.Met830Val

Select item 14891969956.

rs1489196995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:75138531 (GRCh38)
6:75848247 (GRCh37)
Canonical SPDI:: NC_000006.12:75138530:G:A
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.75138531G>A, NC_000006.11:g.75848247G>A, NG_042181.1:g.72377C>T, NM_004370.6:c.5147C>T, NM_004370.5:c.5147C>T, NM_080645.3:c.1655C>T, NM_080645.2:c.1655C>T, XM_017010252.3:c.5111C>T, XM_017010252.2:c.5111C>T, XM_017010252.1:c.5111C>T, XM_011535436.3:c.1655C>T, XM_011535436.2:c.1655C>T, XM_011535436.1:c.1655C>T, XM_011535434.2:c.5147C>T, XM_011535434.1:c.5147C>T, XM_011535435.2:c.4874C>T, XM_011535435.1:c.4874C>T, XM_047418185.1:c.4874C>T, XM_047418184.1:c.5147C>T, XM_047418186.1:c.1655C>T, NP_004361.3:p.Pro1716Leu, NP_542376.2:p.Pro552Leu, XP_016865741.1:p.Pro1704Leu, XP_011533738.1:p.Pro552Leu, XP_011533736.1:p.Pro1716Leu, XP_011533737.1:p.Pro1625Leu, XP_047274141.1:p.Pro1625Leu, XP_047274140.1:p.Pro1716Leu, XP_047274142.1:p.Pro552Leu

Select item 14886582097.

rs1488658209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75130201 (GRCh38)
6:75839917 (GRCh37)
Canonical SPDI:: NC_000006.12:75130200:A:G
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75130201A>G, NC_000006.11:g.75839917A>G, NG_042181.1:g.80707T>C, NM_004370.6:c.6100T>C, NM_004370.5:c.6100T>C, NM_080645.3:c.2608T>C, NM_080645.2:c.2608T>C, XM_017010252.3:c.6064T>C, XM_017010252.2:c.6064T>C, XM_017010252.1:c.6064T>C, XM_011535436.3:c.2608T>C, XM_011535436.2:c.2608T>C, XM_011535436.1:c.2608T>C, XM_011535434.2:c.6100T>C, XM_011535434.1:c.6100T>C, XM_011535435.2:c.5827T>C, XM_011535435.1:c.5827T>C, XM_047418185.1:c.5827T>C, XM_047418184.1:c.6100T>C, XM_047418186.1:c.2608T>C, NP_004361.3:p.Phe2034Leu, NP_542376.2:p.Phe870Leu, XP_016865741.1:p.Phe2022Leu, XP_011533738.1:p.Phe870Leu, XP_011533736.1:p.Phe2034Leu, XP_011533737.1:p.Phe1943Leu, XP_047274141.1:p.Phe1943Leu, XP_047274140.1:p.Phe2034Leu, XP_047274142.1:p.Phe870Leu

Select item 14883245498.

rs1488324549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:75146147 (GRCh38)
6:75855863 (GRCh37)
Canonical SPDI:: NC_000006.12:75146146:C:T
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.75146147C>T, NC_000006.11:g.75855863C>T, NG_042181.1:g.64761G>A, NM_004370.6:c.4515G>A, NM_004370.5:c.4515G>A, NM_080645.3:c.1023G>A, NM_080645.2:c.1023G>A, XM_017010252.3:c.4479G>A, XM_017010252.2:c.4479G>A, XM_017010252.1:c.4479G>A, XM_011535436.3:c.1023G>A, XM_011535436.2:c.1023G>A, XM_011535436.1:c.1023G>A, XM_011535434.2:c.4515G>A, XM_011535434.1:c.4515G>A, XM_011535435.2:c.4242G>A, XM_011535435.1:c.4242G>A, XM_047418185.1:c.4242G>A, XM_047418184.1:c.4515G>A, XM_047418186.1:c.1023G>A

Select item 14883090369.

rs1488309036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:75124306 (GRCh38)
6:75834022 (GRCh37)
Canonical SPDI:: NC_000006.12:75124305:A:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75124306A>C, NC_000006.11:g.75834022A>C, NG_042181.1:g.86602T>G, NM_004370.6:c.6673T>G, NM_004370.5:c.6673T>G, NM_080645.3:c.3181T>G, NM_080645.2:c.3181T>G, XM_017010252.3:c.6637T>G, XM_017010252.2:c.6637T>G, XM_017010252.1:c.6637T>G, XM_011535436.3:c.3181T>G, XM_011535436.2:c.3181T>G, XM_011535436.1:c.3181T>G, XM_011535434.2:c.6673T>G, XM_011535434.1:c.6673T>G, XM_011535435.2:c.6400T>G, XM_011535435.1:c.6400T>G, XM_047418185.1:c.6400T>G, XM_047418184.1:c.6673T>G, XM_047418186.1:c.3181T>G, NP_004361.3:p.Ser2225Ala, NP_542376.2:p.Ser1061Ala, XP_016865741.1:p.Ser2213Ala, XP_011533738.1:p.Ser1061Ala, XP_011533736.1:p.Ser2225Ala, XP_011533737.1:p.Ser2134Ala, XP_047274141.1:p.Ser2134Ala, XP_047274140.1:p.Ser2225Ala, XP_047274142.1:p.Ser1061Ala

Select item 148767940610.

rs1487679406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:75128312 (GRCh38)
6:75838028 (GRCh37)
Canonical SPDI:: NC_000006.12:75128311:T:A
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
HGVS:: NC_000006.12:g.75128312T>A, NC_000006.11:g.75838028T>A, NG_042181.1:g.82596A>T, NM_004370.6:c.6324A>T, NM_004370.5:c.6324A>T, NM_080645.3:c.2832A>T, NM_080645.2:c.2832A>T, XM_017010252.3:c.6288A>T, XM_017010252.2:c.6288A>T, XM_017010252.1:c.6288A>T, XM_011535436.3:c.2832A>T, XM_011535436.2:c.2832A>T, XM_011535436.1:c.2832A>T, XM_011535434.2:c.6324A>T, XM_011535434.1:c.6324A>T, XM_011535435.2:c.6051A>T, XM_011535435.1:c.6051A>T, XM_047418185.1:c.6051A>T, XM_047418184.1:c.6324A>T, XM_047418186.1:c.2832A>T

Select item 148743635211.

rs1487436352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:75184060 (GRCh38)
6:75893776 (GRCh37)
Canonical SPDI:: NC_000006.12:75184059:A:T
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.75184060A>T, NC_000006.11:g.75893776A>T, NG_042181.1:g.26848T>A, NM_004370.6:c.1082T>A, NM_004370.5:c.1082T>A, XM_017010252.3:c.1046T>A, XM_017010252.2:c.1046T>A, XM_017010252.1:c.1046T>A, XM_011535434.2:c.1082T>A, XM_011535434.1:c.1082T>A, XM_011535435.2:c.1082T>A, XM_011535435.1:c.1082T>A, XM_047418185.1:c.1082T>A, XM_047418184.1:c.1082T>A, NP_004361.3:p.Val361Glu, XP_016865741.1:p.Val349Glu, XP_011533736.1:p.Val361Glu, XP_011533737.1:p.Val361Glu, XP_047274141.1:p.Val361Glu, XP_047274140.1:p.Val361Glu

Select item 148697276812.

rs1486972768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:75097305 (GRCh38)
6:75807021 (GRCh37)
Canonical SPDI:: NC_000006.12:75097304:C:A,NC_000006.12:75097304:C:T
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75097305C>A, NC_000006.12:g.75097305C>T, NC_000006.11:g.75807021C>A, NC_000006.11:g.75807021C>T, NG_042181.1:g.113603G>T, NG_042181.1:g.113603G>A, NM_004370.6:c.8525G>T, NM_004370.6:c.8525G>A, NM_004370.5:c.8525G>T, NM_004370.5:c.8525G>A, NM_080645.3:c.5033G>T, NM_080645.3:c.5033G>A, NM_080645.2:c.5033G>T, NM_080645.2:c.5033G>A, XM_017010252.3:c.8489G>T, XM_017010252.3:c.8489G>A, XM_017010252.2:c.8489G>T, XM_017010252.2:c.8489G>A, XM_017010252.1:c.8489G>T, XM_017010252.1:c.8489G>A, XM_011535436.3:c.5033G>T, XM_011535436.3:c.5033G>A, XM_011535436.2:c.5033G>T, XM_011535436.2:c.5033G>A, XM_011535436.1:c.5033G>T, XM_011535436.1:c.5033G>A, XM_011535434.2:c.8525G>T, XM_011535434.2:c.8525G>A, XM_011535434.1:c.8525G>T, XM_011535434.1:c.8525G>A, XM_011535435.2:c.8252G>T, XM_011535435.2:c.8252G>A, XM_011535435.1:c.8252G>T, XM_011535435.1:c.8252G>A, XM_047418185.1:c.8252G>T, XM_047418185.1:c.8252G>A, XM_047418184.1:c.8525G>T, XM_047418184.1:c.8525G>A, XM_047418186.1:c.5033G>T, XM_047418186.1:c.5033G>A, NP_004361.3:p.Gly2842Val, NP_004361.3:p.Gly2842Asp, NP_542376.2:p.Gly1678Val, NP_542376.2:p.Gly1678Asp, XP_016865741.1:p.Gly2830Val, XP_016865741.1:p.Gly2830Asp, XP_011533738.1:p.Gly1678Val, XP_011533738.1:p.Gly1678Asp, XP_011533736.1:p.Gly2842Val, XP_011533736.1:p.Gly2842Asp, XP_011533737.1:p.Gly2751Val, XP_011533737.1:p.Gly2751Asp, XP_047274141.1:p.Gly2751Val, XP_047274141.1:p.Gly2751Asp, XP_047274140.1:p.Gly2842Val, XP_047274140.1:p.Gly2842Asp, XP_047274142.1:p.Gly1678Val, XP_047274142.1:p.Gly1678Asp

Select item 148689773213.

rs1486897732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75183944 (GRCh38)
6:75893660 (GRCh37)
Canonical SPDI:: NC_000006.12:75183943:A:G
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75183944A>G, NC_000006.11:g.75893660A>G, NG_042181.1:g.26964T>C, NM_004370.6:c.1198T>C, NM_004370.5:c.1198T>C, XM_017010252.3:c.1162T>C, XM_017010252.2:c.1162T>C, XM_017010252.1:c.1162T>C, XM_011535434.2:c.1198T>C, XM_011535434.1:c.1198T>C, XM_011535435.2:c.1198T>C, XM_011535435.1:c.1198T>C, XM_047418185.1:c.1198T>C, XM_047418184.1:c.1198T>C, NP_004361.3:p.Tyr400His, XP_016865741.1:p.Tyr388His, XP_011533736.1:p.Tyr400His, XP_011533737.1:p.Tyr400His, XP_047274141.1:p.Tyr400His, XP_047274140.1:p.Tyr400His

Select item 148671260714.

rs1486712607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:75125176 (GRCh38)
6:75834892 (GRCh37)
Canonical SPDI:: NC_000006.12:75125175:A:G,NC_000006.12:75125175:A:T
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.75125176A>G, NC_000006.12:g.75125176A>T, NC_000006.11:g.75834892A>G, NC_000006.11:g.75834892A>T, NG_042181.1:g.85732T>C, NG_042181.1:g.85732T>A, NM_004370.6:c.6558T>C, NM_004370.6:c.6558T>A, NM_004370.5:c.6558T>C, NM_004370.5:c.6558T>A, NM_080645.3:c.3066T>C, NM_080645.3:c.3066T>A, NM_080645.2:c.3066T>C, NM_080645.2:c.3066T>A, XM_017010252.3:c.6522T>C, XM_017010252.3:c.6522T>A, XM_017010252.2:c.6522T>C, XM_017010252.2:c.6522T>A, XM_017010252.1:c.6522T>C, XM_017010252.1:c.6522T>A, XM_011535436.3:c.3066T>C, XM_011535436.3:c.3066T>A, XM_011535436.2:c.3066T>C, XM_011535436.2:c.3066T>A, XM_011535436.1:c.3066T>C, XM_011535436.1:c.3066T>A, XM_011535434.2:c.6558T>C, XM_011535434.2:c.6558T>A, XM_011535434.1:c.6558T>C, XM_011535434.1:c.6558T>A, XM_011535435.2:c.6285T>C, XM_011535435.2:c.6285T>A, XM_011535435.1:c.6285T>C, XM_011535435.1:c.6285T>A, XM_047418185.1:c.6285T>C, XM_047418185.1:c.6285T>A, XM_047418184.1:c.6558T>C, XM_047418184.1:c.6558T>A, XM_047418186.1:c.3066T>C, XM_047418186.1:c.3066T>A

Select item 148642926615.

rs1486429266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75137534 (GRCh38)
6:75847250 (GRCh37)
Canonical SPDI:: NC_000006.12:75137533:G:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75137534G>C, NC_000006.11:g.75847250G>C, NG_042181.1:g.73374C>G, NM_004370.6:c.5297C>G, NM_004370.5:c.5297C>G, NM_080645.3:c.1805C>G, NM_080645.2:c.1805C>G, XM_017010252.3:c.5261C>G, XM_017010252.2:c.5261C>G, XM_017010252.1:c.5261C>G, XM_011535436.3:c.1805C>G, XM_011535436.2:c.1805C>G, XM_011535436.1:c.1805C>G, XM_011535434.2:c.5297C>G, XM_011535434.1:c.5297C>G, XM_011535435.2:c.5024C>G, XM_011535435.1:c.5024C>G, XM_047418185.1:c.5024C>G, XM_047418184.1:c.5297C>G, XM_047418186.1:c.1805C>G, NP_004361.3:p.Ser1766Cys, NP_542376.2:p.Ser602Cys, XP_016865741.1:p.Ser1754Cys, XP_011533738.1:p.Ser602Cys, XP_011533736.1:p.Ser1766Cys, XP_011533737.1:p.Ser1675Cys, XP_047274141.1:p.Ser1675Cys, XP_047274140.1:p.Ser1766Cys, XP_047274142.1:p.Ser602Cys

Select item 148635818116.

rs1486358181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75142088 (GRCh38)
6:75851804 (GRCh37)
Canonical SPDI:: NC_000006.12:75142087:A:G
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75142088A>G, NC_000006.11:g.75851804A>G, NG_042181.1:g.68820T>C, NM_004370.6:c.4901T>C, NM_004370.5:c.4901T>C, NM_080645.3:c.1409T>C, NM_080645.2:c.1409T>C, XM_017010252.3:c.4865T>C, XM_017010252.2:c.4865T>C, XM_017010252.1:c.4865T>C, XM_011535436.3:c.1409T>C, XM_011535436.2:c.1409T>C, XM_011535436.1:c.1409T>C, XM_011535434.2:c.4901T>C, XM_011535434.1:c.4901T>C, XM_011535435.2:c.4628T>C, XM_011535435.1:c.4628T>C, XM_047418185.1:c.4628T>C, XM_047418184.1:c.4901T>C, XM_047418186.1:c.1409T>C, NP_004361.3:p.Val1634Ala, NP_542376.2:p.Val470Ala, XP_016865741.1:p.Val1622Ala, XP_011533738.1:p.Val470Ala, XP_011533736.1:p.Val1634Ala, XP_011533737.1:p.Val1543Ala, XP_047274141.1:p.Val1543Ala, XP_047274140.1:p.Val1634Ala, XP_047274142.1:p.Val470Ala

Select item 148548298317.

rs1485482983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75154485 (GRCh38)
6:75864201 (GRCh37)
Canonical SPDI:: NC_000006.12:75154484:T:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75154485T>C, NC_000006.11:g.75864201T>C, NG_042181.1:g.56423A>G, NM_004370.6:c.3496A>G, NM_004370.5:c.3496A>G, XM_017010252.3:c.3460A>G, XM_017010252.2:c.3460A>G, XM_017010252.1:c.3460A>G, XM_011535434.2:c.3496A>G, XM_011535434.1:c.3496A>G, XM_011535435.2:c.3223A>G, XM_011535435.1:c.3223A>G, XM_047418185.1:c.3223A>G, XM_047418184.1:c.3496A>G, NP_004361.3:p.Ser1166Gly, XP_016865741.1:p.Ser1154Gly, XP_011533736.1:p.Ser1166Gly, XP_011533737.1:p.Ser1075Gly, XP_047274141.1:p.Ser1075Gly, XP_047274140.1:p.Ser1166Gly

Select item 148502219018.

rs1485022190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75090158 (GRCh38)
6:75799874 (GRCh37)
Canonical SPDI:: NC_000006.12:75090157:G:C
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75090158G>C, NC_000006.11:g.75799874G>C, NG_042181.1:g.120750C>G, NM_004370.6:c.8893C>G, NM_004370.5:c.8893C>G, NM_080645.3:c.5401C>G, NM_080645.2:c.5401C>G, XM_017010252.3:c.8857C>G, XM_017010252.2:c.8857C>G, XM_017010252.1:c.8857C>G, XM_011535436.3:c.5401C>G, XM_011535436.2:c.5401C>G, XM_011535436.1:c.5401C>G, XM_011535434.2:c.8893C>G, XM_011535434.1:c.8893C>G, XM_011535435.2:c.8620C>G, XM_011535435.1:c.8620C>G, XM_047418185.1:c.8620C>G, XM_047418184.1:c.8893C>G, XM_047418186.1:c.5401C>G, NP_004361.3:p.Pro2965Ala, NP_542376.2:p.Pro1801Ala, XP_016865741.1:p.Pro2953Ala, XP_011533738.1:p.Pro1801Ala, XP_011533736.1:p.Pro2965Ala, XP_011533737.1:p.Pro2874Ala, XP_047274141.1:p.Pro2874Ala, XP_047274140.1:p.Pro2965Ala, XP_047274142.1:p.Pro1801Ala

Select item 148492475619.

rs1484924756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:75183096 (GRCh38)
6:75892812 (GRCh37)
Canonical SPDI:: NC_000006.12:75183095:A:G,NC_000006.12:75183095:A:T
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75183096A>G, NC_000006.12:g.75183096A>T, NC_000006.11:g.75892812A>G, NC_000006.11:g.75892812A>T, NG_042181.1:g.27812T>C, NG_042181.1:g.27812T>A, NM_004370.6:c.1845T>C, NM_004370.6:c.1845T>A, NM_004370.5:c.1845T>C, NM_004370.5:c.1845T>A, XM_017010252.3:c.1809T>C, XM_017010252.3:c.1809T>A, XM_017010252.2:c.1809T>C, XM_017010252.2:c.1809T>A, XM_017010252.1:c.1809T>C, XM_017010252.1:c.1809T>A, XM_011535434.2:c.1845T>C, XM_011535434.2:c.1845T>A, XM_011535434.1:c.1845T>C, XM_011535434.1:c.1845T>A, XM_011535435.2:c.1845T>C, XM_011535435.2:c.1845T>A, XM_011535435.1:c.1845T>C, XM_011535435.1:c.1845T>A, XM_047418185.1:c.1845T>C, XM_047418185.1:c.1845T>A, XM_047418184.1:c.1845T>C, XM_047418184.1:c.1845T>A

Select item 148490863420.

rs1484908634 [Homo sapiens]

Variant type:: DEL
Alleles:: GTTTCCATGTAA>- [Show Flanks]
Chromosome:: 6:75156455 (GRCh38)
6:75866171 (GRCh37)
Canonical SPDI:: NC_000006.12:75156454:GTTTCCATGTAA:
Gene:: COL12A1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.75156455_75156466del, NC_000006.11:g.75866171_75866182del, NG_042181.1:g.54442_54453del, NM_004370.6:c.3041_3052del, NM_004370.5:c.3041_3052del, XM_017010252.3:c.3005_3016del, XM_017010252.2:c.3005_3016del, XM_017010252.1:c.3005_3016del, XM_011535434.2:c.3041_3052del, XM_011535434.1:c.3041_3052del, XM_011535435.2:c.2768_2779del, XM_011535435.1:c.2768_2779del, XM_047418185.1:c.2768_2779del, XM_047418184.1:c.3041_3052del, NP_004361.3:p.Val1014_Pro1018delinsAla, XP_016865741.1:p.Val1002_Pro1006delinsAla, XP_011533736.1:p.Val1014_Pro1018delinsAla, XP_011533737.1:p.Val923_Pro927delinsAla, XP_047274141.1:p.Val923_Pro927delinsAla, XP_047274140.1:p.Val1014_Pro1018delinsAla

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