Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899036C>T , CM000679.2:g.4899036C>T | GRCh38 |
| NC_000017.10:g.4802331C>T , CM000679.1:g.4802331C>T | GRCh37 |
| NC_000017.9:g.4743110C>T | NCBI36 |
| NG_008029.2:g.9040G>A | |
| NG_028005.1:g.70697C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000080.4:c.1291G>A MANE Select | NP_000071.1:p.Ala431Thr |
| ENST00000649488.2:c.1291G>A MANE Select | ENSP00000497829.1:p.Ala431Thr |
| NM_000080.3:c.1291G>A | NP_000071.1:p.Ala431Thr |
| ENST00000293780.4:c.1291G>A | ENSP00000293780.4:p.Ala431Thr |
| ENST00000572438.1:n.977G>A | |
| ENST00000649830.1:c.358G>A | ENSP00000496907.1:p.Ala120Thr |
| ENST00000652550.1:n.1021G>A | |
| XM_017024115.1:c.1255G>A | XP_016879604.1:p.Ala419Thr |