Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251241G>T , CM000679.2:g.44251241G>T | GRCh38 |
| NC_000017.10:g.42328609G>T , CM000679.1:g.42328609G>T | GRCh37 |
| NC_000017.9:g.39684135G>T | NCBI36 |
| NG_007498.1:g.21894C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.2573C>A MANE Select | NP_000333.1:p.Ala858Asp |
| ENST00000262418.12:c.2573C>A MANE Select | ENSP00000262418.6:p.Ala858Asp |
| NM_000342.3:c.2573C>A | NP_000333.1:p.Ala858Asp |
| ENST00000262418.10:c.2573C>A | ENSP00000262418.6:p.Ala858Asp |
| ENST00000399246.3:c.1475C>A | ENSP00000382190.3:p.Ala492Asp |
| XM_005257593.3:c.2378C>A | XP_005257650.1:p.Ala793Asp |
| XM_005257593.5:c.2378C>A | XP_005257650.1:p.Ala793Asp |
| XM_011525129.1:c.2483C>A | XP_011523431.1:p.Ala828Asp |
| XM_011525129.2:c.2483C>A | XP_011523431.1:p.Ala828Asp |