Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320690C= , CM000666.2:g.119320690C= | GRCh38 |
| NC_000004.11:g.120241845C= , CM000666.1:g.120241845C= | GRCh37 |
| NC_000004.10:g.120461293C= | NCBI36 |
| NG_011444.1:g.6472G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.220G= MANE Select | ENSP00000274024.3:p.Ala74= | |
| ENST00000274024.3:c.220G= | ENSP00000274024.3:p.Ala74= | |
| NM_000134.3:c.220G= | NP_000125.2:p.Ala74= | |
| NM_000134.4:c.220G= MANE Select | NP_000125.2:p.Ala74= |