Linked Data
ClinVar Variation Id:
465281
dbSNP Id:
rs538253489
ExAC:
19:10923023 C / A
gnomAD v2:
19-10923023-C-A
gnomAD v3:
19-10812347-C-A
gnomAD v4:
19-10812347-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10812347C>A , CM000681.2:g.10812347C>A | GRCh38 |
| NC_000019.9:g.10923023C>A , CM000681.1:g.10923023C>A | GRCh37 |
| NC_000019.8:g.10784023C>A | NCBI36 |
| NG_008792.1:g.99269C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681972.1:n.1072C>A | ||
| ENST00000355667.11:c.1641C>A | ENSP00000347890.6:p.Ala547= | |
| ENST00000389253.9:c.1641C>A MANE Select | ENSP00000373905.4:p.Ala547= | |
| ENST00000355667.10:c.1641C>A | ENSP00000347890.6:p.Ala547= | |
| ENST00000359692.10:c.1629C>A | ENSP00000352721.6:p.Ala543= | |
| ENST00000389253.8:c.1641C>A | ENSP00000373905.3:p.Ala547= | |
| ENST00000408974.8:c.1629C>A | ENSP00000386192.3:p.Ala543= | |
| ENST00000585892.5:c.1641C>A | ENSP00000468734.1:p.Ala547= | |
| ENST00000590787.1:n.3140C>A | ||
| ENST00000590806.5:n.3829C>A | ||
| NM_001005360.2:c.1641C>A | NP_001005360.1:p.Ala547= | |
| NM_001005361.2:c.1641C>A | NP_001005361.1:p.Ala547= | |
| NM_001005362.2:c.1629C>A | NP_001005362.1:p.Ala543= | |
| NM_001190716.1:c.1641C>A | NP_001177645.1:p.Ala547= | |
| NM_004945.3:c.1629C>A | NP_004936.2:p.Ala543= | |
| NM_001005361.3:c.1641C>A MANE Select | NP_001005361.1:p.Ala547= | |
| NM_001190716.2:c.1641C>A | NP_001177645.1:p.Ala547= | |
| NM_001005360.3:c.1641C>A | NP_001005360.1:p.Ala547= | |
| NM_001005362.3:c.1629C>A | NP_001005362.1:p.Ala543= | |
| NM_004945.4:c.1629C>A | NP_004936.2:p.Ala543= |