Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91056001G>T , CM000674.2:g.91056001G>T | GRCh38 |
| NC_000012.11:g.91449778G>T , CM000674.1:g.91449778G>T | GRCh37 |
| NC_000012.10:g.89973909G>T | NCBI36 |
| NG_021223.1:g.7354C>A , LRG_538:g.7354C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.281C>A MANE Select | ENSP00000266719.3:p.Ala94Asp | |
| ENST00000266719.3:c.281C>A | ENSP00000266719.3:p.Ala94Asp | |
| NM_007035.3:c.281C>A , LRG_538t1:c.281C>A | NP_008966.1:p.Ala94Asp | |
| XM_011537781.1:c.281C>A | XP_011536083.1:p.Ala94Asp | |
| NM_007035.4:c.281C>A MANE Select | NP_008966.1:p.Ala94Asp |