Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320729C= , CM000666.2:g.119320729C= | GRCh38 |
| NC_000004.11:g.120241884C= , CM000666.1:g.120241884C= | GRCh37 |
| NC_000004.10:g.120461332C= | NCBI36 |
| NG_011444.1:g.6433G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.181G= MANE Select | ENSP00000274024.3:p.Val61= | |
| ENST00000274024.3:c.181G= | ENSP00000274024.3:p.Val61= | |
| NM_000134.3:c.181G= | NP_000125.2:p.Val61= | |
| NM_000134.4:c.181G= MANE Select | NP_000125.2:p.Val61= |