Linked Data
ClinVar Variation Id:
1728431
ClinVar RCV Id:
RCV002322634
dbSNP Id:
rs1057522384
gnomAD v4:
15-73322922-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322922T>C , CM000677.2:g.73322922T>C | GRCh38 |
| NC_000015.9:g.73615263T>C , CM000677.1:g.73615263T>C | GRCh37 |
| NC_000015.8:g.71402316T>C | NCBI36 |
| NG_009063.1:g.51343A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3171A>G MANE Select | ENSP00000261917.3:p.Ala1057= | |
| ENST00000261917.3:c.3171A>G | ENSP00000261917.3:p.Ala1057= | |
| NM_005477.2:c.3171A>G | NP_005468.1:p.Ala1057= | |
| XM_011521148.1:c.1953A>G | XP_011519450.1:p.Ala651= | |
| XM_011521148.2:c.1953A>G | XP_011519450.1:p.Ala651= | |
| NM_005477.3:c.3171A>G MANE Select | NP_005468.1:p.Ala1057= |