Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007931C>A , CM000666.2:g.88007931C>A | GRCh38 |
| NC_000004.11:g.88929083C>A , CM000666.1:g.88929083C>A | GRCh37 |
| NC_000004.10:g.89148107C>A | NCBI36 |
| NG_008604.1:g.5264C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000297.4:c.198C>A MANE Select | NP_000288.1:p.Asp66Glu |
| ENST00000237596.7:c.198C>A MANE Select | ENSP00000237596.2:p.Asp66Glu |
| NM_000297.3:c.198C>A | NP_000288.1:p.Asp66Glu |
| NR_156488.1:n.285C>A | |
| NR_156488.2:n.297C>A | |
| ENST00000237596.6:c.198C>A | ENSP00000237596.2:p.Asp66Glu |
| XM_011532028.1:c.198C>A | XP_011530330.1:p.Asp66Glu |
| XM_011532028.2:c.198C>A | XP_011530330.1:p.Asp66Glu |
| XR_244632.2:n.293C>A |