Linked Data
ClinVar Variation Id:
942967
ClinVar RCV Id:
RCV001213058
dbSNP Id:
rs1241025790
gnomAD v2:
1-949391-G-A
gnomAD v4:
1-1014011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014011G>A , CM000663.2:g.1014011G>A | GRCh38 |
| NC_000001.10:g.949391G>A , CM000663.1:g.949391G>A | GRCh37 |
| NC_000001.9:g.939254G>A | NCBI36 |
| NG_033033.1:g.5545G>A | |
| NG_033033.2:g.17874G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.7G>A | ENSP00000485643.1:p.Ala3Thr | |
| ENST00000649529.1:c.31G>A MANE Select | ENSP00000496832.1:p.Ala11Thr | |
| ENST00000379389.4:c.31G>A | ENSP00000368699.4:p.Ala11Thr | |
| ENST00000624652.1:c.7G>A | ENSP00000485313.1:p.Ala3Thr | |
| ENST00000624697.3:c.7G>A | ENSP00000485643.1:p.Ala3Thr | |
| NM_005101.3:c.31G>A | NP_005092.1:p.Ala11Thr | |
| NM_005101.4:c.31G>A MANE Select | NP_005092.1:p.Ala11Thr |