Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576160C>T , CM000663.2:g.154576160C>T | GRCh38 |
| NC_000001.10:g.154548636C>T , CM000663.1:g.154548636C>T | GRCh37 |
| NC_000001.9:g.152815260C>T | NCBI36 |
| NG_008027.1:g.13380C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368476.4:c.*228C>T MANE Select | ENSP00000357461.3:n.*228C>T | |
| ENST00000636034.1:c.1505+232C>T | ENSP00000489703.1:n.1505+232C>T | |
| ENST00000637900.1:c.*228C>T | ENSP00000490474.1:n.*228C>T | |
| ENST00000368476.3:c.*228C>T | ENSP00000357461.3:n.*228C>T | |
| NM_000748.2:c.*228C>T | NP_000739.1:n.*228C>T | |
| XM_017000180.2:c.*228C>T | XP_016855669.1:n.*228C>T | |
| XR_001736952.2:n.1989C>T | ||
| NM_000748.3:c.*228C>T MANE Select | NP_000739.1:n.*228C>T |