Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763416C>A , CM000679.2:g.74763416C>A | GRCh38 |
| NC_000017.10:g.72759555C>A , CM000679.1:g.72759555C>A | GRCh37 |
| NC_000017.9:g.70271150C>A | NCBI36 |
| NG_013022.1:g.19793C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.653C>A MANE Select | ENSP00000262613.5:p.Ala218Asp | |
| ENST00000262613.9:c.653C>A | ENSP00000262613.5:p.Ala218Asp | |
| ENST00000413388.2:c.185C>A | ENSP00000464982.1:p.Ala62Asp | |
| ENST00000578958.1:n.387C>A | ||
| ENST00000583369.5:c.442-4731C>A | ENSP00000464321.1:n.442-4731C>A | |
| NM_004252.4:c.653C>A | NP_004243.1:p.Ala218Asp | |
| XR_002958087.1:n.872C>A | ||
| NM_004252.5:c.653C>A MANE Select | NP_004243.1:p.Ala218Asp |