Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44388446C>T , CM000667.2:g.44388446C>T | GRCh38 |
| NC_000005.9:g.44388548C>T , CM000667.1:g.44388548C>T | GRCh37 |
| NC_000005.8:g.44424305C>T | NCBI36 |
| NG_011446.1:g.5237G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004465.2:c.237G>A MANE Select | NP_004456.1:p.Trp79Ter |
| ENST00000264664.5:c.237G>A MANE Select | ENSP00000264664.4:p.Trp79Ter |
| NM_004465.1:c.237G>A | NP_004456.1:p.Trp79Ter |
| ENST00000264664.4:c.237G>A | ENSP00000264664.4:p.Trp79Ter |
| XM_005248264.2:c.237G>A | XP_005248321.1:p.Trp79Ter |
| XM_005248264.4:c.237G>A | XP_005248321.1:p.Trp79Ter |