Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536581G>A , CM000679.2:g.42536581G>A | GRCh38 |
| NC_000017.10:g.40688599G>A , CM000679.1:g.40688599G>A | GRCh37 |
| NC_000017.9:g.37942125G>A | NCBI36 |
| NG_011552.1:g.5649G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000263.4:c.309G>A MANE Select | NP_000254.2:p.Trp103Ter |
| ENST00000225927.7:c.309G>A MANE Select | ENSP00000225927.1:p.Trp103Ter |
| NM_000263.3:c.309G>A | NP_000254.2:p.Trp103Ter |
| ENST00000225927.6:c.309G>A | ENSP00000225927.1:p.Trp103Ter |
| ENST00000586516.5:c.59G>A | |
| ENST00000591587.1:c.52G>A | ENSP00000467836.1:p.Val18Ile |
| XM_006721920.2:c.-434G>A | XP_006721983.1:n.-434G>A |
| XM_011524840.1:c.-434G>A | XP_011523142.1:n.-434G>A |
| XM_024450771.1:c.309G>A | XP_024306539.1:p.Trp103Ter |