Linked Data
ClinVar Variation Id:
2359070
ClinVar RCV Id:
RCV002980096
dbSNP Id:
rs767509596
ExAC:
12:53701436 C / T
gnomAD v2:
12-53701436-C-T
gnomAD v3:
12-53307652-C-T
gnomAD v4:
12-53307652-C-T
COSMIC:
COSM1628679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307652C>T , CM000674.2:g.53307652C>T | GRCh38 |
| NC_000012.11:g.53701436C>T , CM000674.1:g.53701436C>T | GRCh37 |
| NC_000012.10:g.51987703C>T | NCBI36 |
| NG_016775.1:g.18977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1478G>A MANE Select | ENSP00000209873.4:p.Arg493His | |
| ENST00000546562.6:n.2542G>A | ||
| ENST00000547238.6:n.2114G>A | ||
| ENST00000547520.6:n.1594G>A | ||
| ENST00000547757.2:c.*396G>A | ENSP00000448020.2:n.*396G>A | |
| ENST00000548880.2:n.1928G>A | ||
| ENST00000548931.6:c.913G>A | ENSP00000457518.1:p.Val305Ile | |
| ENST00000549450.6:n.1412G>A | ||
| ENST00000552161.6:n.2556G>A | ||
| ENST00000672797.1:n.1967G>A | ||
| ENST00000209873.8:c.1478G>A | ENSP00000209873.4:p.Arg493His | |
| ENST00000394384.7:c.1379G>A | ENSP00000377908.3:p.Arg460His | |
| ENST00000548931.5:c.913G>A | ENSP00000457518.1:p.Val305Ile | |
| ENST00000550286.5:c.1106G>A | ENSP00000446885.1:p.Arg369His | |
| ENST00000552876.5:n.1821G>A | ||
| NM_001173466.1:c.1379G>A | NP_001166937.1:p.Arg460His | |
| NM_015665.5:c.1478G>A | NP_056480.1:p.Arg493His | |
| XM_006719617.2:c.1493G>A | XP_006719680.1:p.Arg498His | |
| XM_011538777.1:c.1535G>A | XP_011537079.1:p.Arg512His | |
| XM_011538778.1:c.1520G>A | XP_011537080.1:p.Arg507His | |
| XM_011538779.1:c.1436G>A | XP_011537081.1:p.Arg479His | |
| XM_011538780.1:c.1421G>A | XP_011537082.1:p.Arg474His | |
| XM_011538781.1:c.869G>A | XP_011537083.1:p.Arg290His | |
| XM_011538778.2:c.1520G>A | XP_011537080.1:p.Arg507His | |
| XM_011538780.2:c.1421G>A | XP_011537082.1:p.Arg474His | |
| XR_001748875.2:n.1535G>A | ||
| NM_015665.6:c.1478G>A MANE Select | NP_056480.1:p.Arg493His | |
| NM_001173466.2:c.1379G>A | NP_001166937.1:p.Arg460His |