Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29065040G>T , CM000664.2:g.29065040G>T | GRCh38 |
| NC_000002.11:g.29287906G>T , CM000664.1:g.29287906G>T | GRCh37 |
| NC_000002.10:g.29141410G>T | NCBI36 |
| NG_021427.1:g.14222C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029883.3:c.3696C>A MANE Select | NP_001025054.1:p.Asp1232Glu |
| ENST00000331664.6:c.3696C>A MANE Select | ENSP00000332809.4:p.Asp1232Glu |
| NM_001029883.2:c.3696C>A | NP_001025054.1:p.Asp1232Glu |
| ENST00000331664.5:c.3696C>A | ENSP00000332809.4:p.Asp1232Glu |
| XM_011532826.1:c.3696C>A | XP_011531128.1:p.Asp1232Glu |
| XR_939901.1:n.69+1145G>T | |
| XR_939902.1:n.69+1145G>T |