Linked Data
ClinVar Variation Id:
2150150
ClinVar RCV Id:
RCV003067425
dbSNP Id:
rs755366581
gnomAD v2:
19-10883162-C-G
gnomAD v4:
19-10772486-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10772486C>G , CM000681.2:g.10772486C>G | GRCh38 |
| NC_000019.9:g.10883162C>G , CM000681.1:g.10883162C>G | GRCh37 |
| NC_000019.8:g.10744162C>G | NCBI36 |
| NG_008792.1:g.59408C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682285.1:n.431C>G | ||
| ENST00000682524.1:n.431C>G | ||
| ENST00000683738.1:n.431C>G | ||
| ENST00000355667.11:c.243C>G | ENSP00000347890.6:p.Ala81= | |
| ENST00000389253.9:c.243C>G MANE Select | ENSP00000373905.4:p.Ala81= | |
| ENST00000355667.10:c.243C>G | ENSP00000347890.6:p.Ala81= | |
| ENST00000359692.10:c.243C>G | ENSP00000352721.6:p.Ala81= | |
| ENST00000389253.8:c.243C>G | ENSP00000373905.3:p.Ala81= | |
| ENST00000408974.8:c.243C>G | ENSP00000386192.3:p.Ala81= | |
| ENST00000585892.5:c.243C>G | ENSP00000468734.1:p.Ala81= | |
| ENST00000586939.5:c.-232C>G | ENSP00000467430.1:n.-232C>G | |
| ENST00000587991.5:n.318C>G | ||
| ENST00000591266.1:n.526C>G | ||
| ENST00000591819.1:n.166C>G | ||
| NM_001005360.2:c.243C>G | NP_001005360.1:p.Ala81= | |
| NM_001005361.2:c.243C>G | NP_001005361.1:p.Ala81= | |
| NM_001005362.2:c.243C>G | NP_001005362.1:p.Ala81= | |
| NM_001190716.1:c.243C>G | NP_001177645.1:p.Ala81= | |
| NM_004945.3:c.243C>G | NP_004936.2:p.Ala81= | |
| NM_001005361.3:c.243C>G MANE Select | NP_001005361.1:p.Ala81= | |
| NM_001190716.2:c.243C>G | NP_001177645.1:p.Ala81= | |
| NM_001005360.3:c.243C>G | NP_001005360.1:p.Ala81= | |
| NM_001005362.3:c.243C>G | NP_001005362.1:p.Ala81= | |
| NM_004945.4:c.243C>G | NP_004936.2:p.Ala81= |