Linked Data
ClinVar Variation Id:
377746
dbSNP Id:
rs141481210
ExAC:
17:13977689 C / A
gnomAD v2:
17-13977689-C-A
gnomAD v3:
17-14074372-C-A
gnomAD v4:
17-14074372-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14074372C>A , CM000679.2:g.14074372C>A | GRCh38 |
| NC_000017.10:g.13977689C>A , CM000679.1:g.13977689C>A | GRCh37 |
| NC_000017.9:g.13918414C>A | NCBI36 |
| NG_008034.1:g.9971C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.93C>A MANE Select | ENSP00000261643.3:p.Asp31Glu | |
| ENST00000664217.1:c.93C>A | ENSP00000499396.1:p.Asp31Glu | |
| ENST00000670279.1:c.93C>A | ENSP00000499450.1:p.Asp31Glu | |
| ENST00000261643.7:c.93C>A | ENSP00000261643.3:p.Asp31Glu | |
| ENST00000429152.6:c.93C>A | ENSP00000397750.2:p.Asp31Glu | |
| ENST00000580561.1:c.93C>A | ENSP00000462190.1:p.Asp31Glu | |
| ENST00000581931.5:c.93C>A | ENSP00000462512.1:p.Asp31Glu | |
| NM_001303.3:c.93C>A | NP_001294.2:p.Asp31Glu | |
| XM_005256458.1:c.93C>A | XP_005256515.1:p.Asp31Glu | |
| XM_011523657.1:c.93C>A | XP_011521959.1:p.Asp31Glu | |
| XM_011523658.1:c.-359C>A | XP_011521960.1:n.-359C>A | |
| XR_933974.1:n.196C>A | ||
| XR_933975.1:n.196C>A | ||
| NM_001303.4:c.93C>A MANE Select | NP_001294.2:p.Asp31Glu |