Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576274T>C , CM000663.2:g.154576274T>C | GRCh38 |
| NC_000001.10:g.154548750T>C , CM000663.1:g.154548750T>C | GRCh37 |
| NC_000001.9:g.152815374T>C | NCBI36 |
| NG_008027.1:g.13494T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.*342T>C MANE Select | ENSP00000357461.3:n.*342T>C | |
| ENST00000636034.1:c.1505+346T>C | ENSP00000489703.1:n.1505+346T>C | |
| ENST00000637900.1:c.*342T>C | ENSP00000490474.1:n.*342T>C | |
| ENST00000368476.3:c.*342T>C | ENSP00000357461.3:n.*342T>C | |
| NM_000748.2:c.*342T>C | NP_000739.1:n.*342T>C | |
| XM_017000180.2:c.*342T>C | XP_016855669.1:n.*342T>C | |
| XR_001736952.2:n.2103T>C | ||
| NM_000748.3:c.*342T>C MANE Select | NP_000739.1:n.*342T>C |