Linked Data
ClinVar Variation Id:
31002
ClinVar RCV Id:
RCV000023993
dbSNP Id:
rs199473676
ExAC:
17:8135745 A / C
gnomAD v2:
17-8135745-A-C
gnomAD v3:
17-8232427-A-C
gnomAD v4:
17-8232427-A-C
PubMed:
PMID:22387016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8232427A>C , CM000679.2:g.8232427A>C | GRCh38 |
| NC_000017.10:g.8135745A>C , CM000679.1:g.8135745A>C | GRCh37 |
| NC_000017.9:g.8076470A>C | NCBI36 |
| NG_032148.1:g.20669T>G | |
| NG_032148.2:g.20669T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580299.2:c.1994T>G | ENSP00000462607.2:p.Val665Gly | |
| ENST00000581729.2:c.1994T>G | ENSP00000462720.2:p.Val665Gly | |
| ENST00000581967.2:n.2446T>G | ||
| ENST00000583254.2:n.2700T>G | ||
| ENST00000699849.1:c.1097T>G | ENSP00000514647.1:p.Val366Gly | |
| ENST00000699850.1:n.1257T>G | ||
| ENST00000699851.1:n.2016T>G | ||
| ENST00000699852.1:c.*670T>G | ENSP00000514648.1:n.*670T>G | |
| ENST00000699853.1:c.1994T>G | ENSP00000514649.1:p.Val665Gly | |
| ENST00000699854.1:n.1787T>G | ||
| ENST00000699855.1:n.2446T>G | ||
| ENST00000699856.1:c.1994T>G | ENSP00000514650.1:p.Val665Gly | |
| ENST00000699857.1:n.2002T>G | ||
| ENST00000699858.1:c.*607T>G | ENSP00000514651.1:n.*607T>G | |
| ENST00000699859.1:c.1865T>G | ENSP00000514652.1:p.Val622Gly | |
| ENST00000699860.1:n.100T>G | ||
| ENST00000699861.1:n.2016T>G | ||
| ENST00000699862.1:n.2954T>G | ||
| ENST00000449476.7:c.1889T>G | ENSP00000396018.2:p.Val630Gly | |
| ENST00000581671.2:n.1983T>G | ||
| ENST00000643543.1:c.*701T>G | ENSP00000494323.1:n.*701T>G | |
| ENST00000651323.1:c.1994T>G MANE Select | ENSP00000498499.1:p.Val665Gly | |
| ENST00000315684.12:c.1994T>G | ENSP00000313759.8:p.Val665Gly | |
| ENST00000449476.6:c.1889T>G | ENSP00000396018.2:p.Val630Gly | |
| ENST00000578240.1:n.222T>G | ||
| NM_025099.5:c.1994T>G | NP_079375.3:p.Val665Gly | |
| NR_046431.1:n.1948T>G | ||
| XM_006721577.2:c.1865T>G | XP_006721640.1:p.Val622Gly | |
| XM_006721578.2:c.1994T>G | XP_006721641.1:p.Val665Gly | |
| XM_006721579.2:c.1994T>G | XP_006721642.1:p.Val665Gly | |
| XM_011524010.1:c.1889T>G | XP_011522312.1:p.Val630Gly | |
| XM_011524011.1:c.1097T>G | XP_011522313.1:p.Val366Gly | |
| XR_429823.2:n.2037T>G | ||
| XR_429824.2:n.2037T>G | ||
| XR_429825.1:n.2037T>G | ||
| NM_025099.6:c.1994T>G MANE Select | NP_079375.3:p.Val665Gly | |
| XM_006721577.3:c.1865T>G | XP_006721640.1:p.Val622Gly | |
| XM_006721578.3:c.1994T>G | XP_006721641.1:p.Val665Gly | |
| XM_011524010.2:c.1889T>G | XP_011522312.1:p.Val630Gly | |
| XM_011524011.2:c.1097T>G | XP_011522313.1:p.Val366Gly | |
| XR_001752639.1:n.1908T>G | ||
| XR_001752640.1:n.2037T>G | ||
| XR_001752641.1:n.2037T>G | ||
| XR_001752642.1:n.2037T>G | ||
| XR_001752643.1:n.2467T>G | ||
| XR_001752644.1:n.2323T>G | ||
| XR_002958073.1:n.2037T>G | ||
| XR_429823.3:n.2037T>G | ||
| XR_429824.3:n.2037T>G | ||
| NR_046431.2:n.1909T>G |