gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13288512G>A , CM000672.2:g.13288512G>A | GRCh38 |
| NC_000010.10:g.13330512G>A , CM000672.1:g.13330512G>A | GRCh37 |
| NC_000010.9:g.13370518G>A | NCBI36 |
| NG_012862.1:g.16619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.526C>T MANE Select | ENSP00000263038.4:p.Gln176Ter | |
| ENST00000263038.8:c.526C>T | ENSP00000263038.4:p.Gln176Ter | |
| ENST00000396913.6:c.226C>T | ENSP00000380121.2:p.Gln76Ter | |
| ENST00000396920.7:c.475C>T | ENSP00000380126.3:p.Gln159Ter | |
| ENST00000453759.6:c.226C>T | ENSP00000412525.2:p.Gln76Ter | |
| ENST00000479604.1:c.532C>T | ENSP00000420117.1:p.Gln178Ter | |
| NM_001037537.1:c.226C>T | NP_001032626.1:p.Gln76Ter | |
| NM_006214.3:c.526C>T | NP_006205.1:p.Gln176Ter | |
| XM_005252469.2:c.460-4673C>T | XP_005252526.1:n.460-4673C>T | |
| NM_001323080.1:c.226C>T | NP_001310009.1:p.Gln76Ter | |
| NM_001323082.1:c.532C>T | NP_001310011.1:p.Gln178Ter | |
| NM_001323083.1:c.415-4673C>T | NP_001310012.1:n.415-4673C>T | |
| NM_001323084.1:c.232C>T | NP_001310013.1:p.Gln78Ter | |
| NM_006214.4:c.526C>T MANE Select | NP_006205.1:p.Gln176Ter | |
| NM_001037537.2:c.226C>T | NP_001032626.1:p.Gln76Ter | |
| NM_001323080.2:c.226C>T | NP_001310009.1:p.Gln76Ter | |
| NM_001323082.2:c.532C>T | NP_001310011.1:p.Gln178Ter | |
| NM_001323083.2:c.415-4673C>T | NP_001310012.1:n.415-4673C>T | |
| NM_001323084.2:c.232C>T | NP_001310013.1:p.Gln78Ter |