Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259631G>A , CM000676.2:g.74259631G>A | GRCh38 |
| NC_000014.8:g.74726334G>A , CM000676.1:g.74726334G>A | GRCh37 |
| NC_000014.7:g.73796087G>A | NCBI36 |
| NG_013092.1:g.25160G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182894.3:c.609G>A MANE Select | NP_878314.1:p.Trp203Ter |
| ENST00000261980.3:c.609G>A MANE Select | ENSP00000261980.2:p.Trp203Ter |
| NM_182894.2:c.609G>A | NP_878314.1:p.Trp203Ter |
| ENST00000261980.2:c.609G>A | ENSP00000261980.2:p.Trp203Ter |
| XM_011536719.1:c.609G>A | XP_011535021.1:p.Trp203Ter |