Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071282C>T , CM000664.2:g.29071282C>T | GRCh38 |
| NC_000002.11:g.29294148C>T , CM000664.1:g.29294148C>T | GRCh37 |
| NC_000002.10:g.29147652C>T | NCBI36 |
| NG_021427.1:g.7980G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029883.3:c.2980G>A MANE Select | NP_001025054.1:p.Ala994Thr |
| ENST00000331664.6:c.2980G>A MANE Select | ENSP00000332809.4:p.Ala994Thr |
| NM_001029883.2:c.2980G>A | NP_001025054.1:p.Ala994Thr |
| ENST00000331664.5:c.2980G>A | ENSP00000332809.4:p.Ala994Thr |
| XM_011532826.1:c.2980G>A | XP_011531128.1:p.Ala994Thr |
| XR_939901.1:n.185+2115C>T | |
| XR_939902.1:n.173+2127C>T |