Linked Data
ClinVar Variation Id:
465286
dbSNP Id:
rs755608537
ExAC:
19:10940963 G / A
gnomAD v2:
19-10940963-G-A
gnomAD v3:
19-10830287-G-A
gnomAD v4:
19-10830287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10830287G>A , CM000681.2:g.10830287G>A | GRCh38 |
| NC_000019.9:g.10940963G>A , CM000681.1:g.10940963G>A | GRCh37 |
| NC_000019.8:g.10801963G>A | NCBI36 |
| NG_008792.1:g.117209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681972.1:n.1883G>A | ||
| ENST00000355667.11:c.2452G>A | ENSP00000347890.6:p.Val818Met | |
| ENST00000389253.9:c.2452G>A MANE Select | ENSP00000373905.4:p.Val818Met | |
| ENST00000355667.10:c.2452G>A | ENSP00000347890.6:p.Val818Met | |
| ENST00000359692.10:c.2440G>A | ENSP00000352721.6:p.Val814Met | |
| ENST00000389253.8:c.2452G>A | ENSP00000373905.3:p.Val818Met | |
| ENST00000408974.8:c.2440G>A | ENSP00000386192.3:p.Val814Met | |
| ENST00000585892.5:c.2452G>A | ENSP00000468734.1:p.Val818Met | |
| ENST00000589106.1:c.318G>A | ||
| ENST00000590806.5:n.4640G>A | ||
| ENST00000593203.1:n.1235G>A | ||
| NM_001005360.2:c.2452G>A | NP_001005360.1:p.Val818Met | |
| NM_001005361.2:c.2452G>A | NP_001005361.1:p.Val818Met | |
| NM_001005362.2:c.2440G>A | NP_001005362.1:p.Val814Met | |
| NM_001190716.1:c.2452G>A | NP_001177645.1:p.Val818Met | |
| NM_004945.3:c.2440G>A | NP_004936.2:p.Val814Met | |
| NM_001005361.3:c.2452G>A MANE Select | NP_001005361.1:p.Val818Met | |
| NM_001190716.2:c.2452G>A | NP_001177645.1:p.Val818Met | |
| NM_001005360.3:c.2452G>A | NP_001005360.1:p.Val818Met | |
| NM_001005362.3:c.2440G>A | NP_001005362.1:p.Val814Met | |
| NM_004945.4:c.2440G>A | NP_004936.2:p.Val814Met |