Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859139C>T , CM000665.2:g.48859139C>T | GRCh38 |
| NC_000003.11:g.48896572C>T , CM000665.1:g.48896572C>T | GRCh37 |
| NC_000003.10:g.48871576C>T | NCBI36 |
| NG_008171.1:g.44758G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.671G>A MANE Select | NP_000378.1:p.Trp224Ter |
| ENST00000319017.5:c.671G>A MANE Select | ENSP00000326305.4:p.Trp224Ter |
| NM_000387.5:c.671G>A | NP_000378.1:p.Trp224Ter |
| ENST00000319017.4:c.671G>A | ENSP00000326305.4:p.Trp224Ter |
| ENST00000430379.5:c.452G>A | ENSP00000388986.1:p.Trp151Ter |
| ENST00000440964.1:c.*501G>A | ENSP00000388563.1:n.*501G>A |
| XM_006713327.1:c.536-1367G>A | XP_006713390.1:n.536-1367G>A |