Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2431573C>T , CM000681.2:g.2431573C>T | GRCh38 |
| NC_000019.9:g.2431571C>T , CM000681.1:g.2431571C>T | GRCh37 |
| NC_000019.8:g.2382571C>T | NCBI36 |
| NG_008355.1:g.30388G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1796G>A MANE Select | NP_116126.3:p.Gly599Asp |
| ENST00000325327.4:c.1796G>A MANE Select | ENSP00000327054.3:p.Gly599Asp |
| NM_032737.3:c.1796G>A | NP_116126.3:p.Gly599Asp |
| ENST00000325327.3:c.1796G>A | ENSP00000327054.3:p.Gly599Asp |
| ENST00000475819.1:n.47+210G>A | |
| ENST00000532465.1:n.388G>A | |
| XM_011528378.1:c.1796G>A | XP_011526680.1:p.Gly599Asp |
| XM_011528379.1:c.1448G>A | XP_011526681.1:p.Gly483Asp |