Linked Data
ClinVar Variation Id:
907
ClinVar RCV Id:
RCV000000955
dbSNP Id:
rs121918184
gnomAD v3:
7-65960972-C-A
gnomAD v4:
7-65960972-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960972C>A , CM000669.2:g.65960972C>A | GRCh38 |
| NC_000007.13:g.65425959C>A , CM000669.1:g.65425959C>A | GRCh37 |
| NC_000007.12:g.65063394C>A | NCBI36 |
| NG_016197.1:g.26343G>T | |
| NG_051954.1:g.92874C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304895.9:c.1881G>T MANE Select | ENSP00000302728.4:p.Trp627Cys | |
| ENST00000304895.8:c.1881G>T | ENSP00000302728.4:p.Trp627Cys | |
| ENST00000421103.5:c.1443G>T | ENSP00000391390.1:p.Trp481Cys | |
| ENST00000430730.5:c.*1148G>T | ENSP00000411859.1:n.*1148G>T | |
| ENST00000447929.5:c.*1261G>T | ENSP00000411262.1:n.*1261G>T | |
| ENST00000466883.5:n.2271G>T | ||
| NM_000181.3:c.1881G>T | NP_000172.2:p.Trp627Cys | |
| NM_001284290.1:c.1443G>T | NP_001271219.1:p.Trp481Cys | |
| NM_001293104.1:c.1311G>T | NP_001280033.1:p.Trp437Cys | |
| NM_001293105.1:c.1224G>T | NP_001280034.1:p.Trp408Cys | |
| NR_120531.1:n.1927G>T | ||
| XM_005250297.3:c.1728G>T | XP_005250354.1:p.Trp576Cys | |
| XM_011516113.1:c.1380G>T | XP_011514415.1:p.Trp460Cys | |
| XM_011516114.1:c.1209G>T | XP_011514416.1:p.Trp403Cys | |
| XM_005250297.4:c.1728G>T | XP_005250354.1:p.Trp576Cys | |
| XM_011516114.2:c.1209G>T | XP_011514416.1:p.Trp403Cys | |
| XM_017012091.1:c.1227G>T | XP_016867580.1:p.Trp409Cys | |
| XM_017012092.1:c.1158G>T | XP_016867581.1:p.Trp386Cys | |
| XM_017012093.2:c.1056G>T | XP_016867582.1:p.Trp352Cys | |
| XR_001744658.2:n.1688G>T | ||
| XR_001744659.2:n.1801G>T | ||
| XR_001744660.2:n.1733G>T | ||
| XR_001744661.2:n.1648G>T | ||
| XR_927461.3:n.1886G>T | ||
| NM_000181.4:c.1881G>T MANE Select | NP_000172.2:p.Trp627Cys | |
| NM_001284290.2:c.1443G>T | NP_001271219.1:p.Trp481Cys | |
| NM_001293104.2:c.1311G>T | NP_001280033.1:p.Trp437Cys | |
| NM_001293105.2:c.1224G>T | NP_001280034.1:p.Trp408Cys | |
| NR_120531.2:n.1826G>T |