Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59136459C>A , CM000677.2:g.59136459C>A | GRCh38 |
| NC_000015.9:g.59428658C>A , CM000677.1:g.59428658C>A | GRCh37 |
| NC_000015.8:g.57215950C>A | NCBI36 |
| NG_031999.1:g.241414G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004998.4:c.*921G>T MANE Select | NP_004989.2:n.*921G>T |
| ENST00000288235.9:c.*921G>T MANE Select | ENSP00000288235.4:n.*921G>T |
| NM_004998.3:c.*921G>T | NP_004989.2:n.*921G>T |
| ENST00000288235.8:c.*921G>T | ENSP00000288235.4:n.*921G>T |
| ENST00000559412.1:c.448G>T | ENSP00000453936.1:n.448G>T |
| XM_024449932.1:c.*921G>T | XP_024305700.1:n.*921G>T |