Linked Data
dbSNP Id:
rs760332267
ExAC:
10:13325772 A / G
gnomAD v2:
10-13325772-A-G
gnomAD v3:
10-13283772-A-G
gnomAD v4:
10-13283772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283772A>G , CM000672.2:g.13283772A>G | GRCh38 |
| NC_000010.10:g.13325772A>G , CM000672.1:g.13325772A>G | GRCh37 |
| NC_000010.9:g.13365778A>G | NCBI36 |
| NG_012862.1:g.21359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.746T>C MANE Select | ENSP00000263038.4:p.Val249Ala | |
| ENST00000263038.8:c.746T>C | ENSP00000263038.4:p.Val249Ala | |
| ENST00000396913.6:c.446T>C | ENSP00000380121.2:p.Val149Ala | |
| ENST00000396920.7:c.695T>C | ENSP00000380126.3:p.Val232Ala | |
| ENST00000453759.6:c.446T>C | ENSP00000412525.2:p.Val149Ala | |
| NM_001037537.1:c.446T>C | NP_001032626.1:p.Val149Ala | |
| NM_006214.3:c.746T>C | NP_006205.1:p.Val249Ala | |
| XM_005252469.2:c.527T>C | XP_005252526.1:p.Val176Ala | |
| NM_001323080.1:c.446T>C | NP_001310009.1:p.Val149Ala | |
| NM_001323082.1:c.752T>C | NP_001310011.1:p.Val251Ala | |
| NM_001323083.1:c.482T>C | NP_001310012.1:p.Val161Ala | |
| NM_001323084.1:c.452T>C | NP_001310013.1:p.Val151Ala | |
| NM_006214.4:c.746T>C MANE Select | NP_006205.1:p.Val249Ala | |
| NM_001037537.2:c.446T>C | NP_001032626.1:p.Val149Ala | |
| NM_001323080.2:c.446T>C | NP_001310009.1:p.Val149Ala | |
| NM_001323082.2:c.752T>C | NP_001310011.1:p.Val251Ala | |
| NM_001323083.2:c.482T>C | NP_001310012.1:p.Val161Ala | |
| NM_001323084.2:c.452T>C | NP_001310013.1:p.Val151Ala |