Linked Data
ClinVar Variation Id:
246588
dbSNP Id:
rs879254323
gnomAD v2:
19-10897343-G-A
gnomAD v4:
19-10786667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10786667G>A , CM000681.2:g.10786667G>A | GRCh38 |
| NC_000019.9:g.10897343G>A , CM000681.1:g.10897343G>A | GRCh37 |
| NC_000019.8:g.10758343G>A | NCBI36 |
| NG_008792.1:g.73589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.1141G>A | ||
| ENST00000682524.1:n.1141G>A | ||
| ENST00000683738.1:n.1141G>A | ||
| ENST00000355667.11:c.953G>A | ENSP00000347890.6:p.Arg318Gln | |
| ENST00000389253.9:c.953G>A MANE Select | ENSP00000373905.4:p.Arg318Gln | |
| ENST00000355667.10:c.953G>A | ENSP00000347890.6:p.Arg318Gln | |
| ENST00000359692.10:c.953G>A | ENSP00000352721.6:p.Arg318Gln | |
| ENST00000389253.8:c.953G>A | ENSP00000373905.3:p.Arg318Gln | |
| ENST00000408974.8:c.953G>A | ENSP00000386192.3:p.Arg318Gln | |
| ENST00000585892.5:c.953G>A | ENSP00000468734.1:p.Arg318Gln | |
| ENST00000586130.1:n.238G>A | ||
| ENST00000587485.1:n.459G>A | ||
| ENST00000587830.2:c.209G>A | ENSP00000466603.2:p.Arg70Gln | |
| ENST00000591701.5:n.313G>A | ||
| NM_001005360.2:c.953G>A | NP_001005360.1:p.Arg318Gln | |
| NM_001005361.2:c.953G>A | NP_001005361.1:p.Arg318Gln | |
| NM_001005362.2:c.953G>A | NP_001005362.1:p.Arg318Gln | |
| NM_001190716.1:c.953G>A | NP_001177645.1:p.Arg318Gln | |
| NM_004945.3:c.953G>A | NP_004936.2:p.Arg318Gln | |
| NM_001005361.3:c.953G>A MANE Select | NP_001005361.1:p.Arg318Gln | |
| NM_001190716.2:c.953G>A | NP_001177645.1:p.Arg318Gln | |
| NM_001005360.3:c.953G>A | NP_001005360.1:p.Arg318Gln | |
| NM_001005362.3:c.953G>A | NP_001005362.1:p.Arg318Gln | |
| NM_004945.4:c.953G>A | NP_004936.2:p.Arg318Gln |