Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124745619G>A , CM000665.2:g.124745619G>A | GRCh38 |
| NC_000003.11:g.124464466G>A , CM000665.1:g.124464466G>A | GRCh37 |
| NC_000003.10:g.125947156G>A | NCBI36 |
| NG_017037.1:g.20254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*1535G>A MANE Select | ENSP00000232607.2:n.*1535G>A | |
| ENST00000232607.6:c.*1535G>A | ENSP00000232607.2:n.*1535G>A | |
| NM_000373.3:c.*1535G>A | NP_000364.1:n.*1535G>A | |
| NR_033434.1:n.2930G>A | ||
| NR_033437.1:n.3183G>A | ||
| XR_001740253.2:n.3212G>A | ||
| NM_000373.4:c.*1535G>A MANE Select | NP_000364.1:n.*1535G>A | |
| NR_033434.2:n.2844G>A | ||
| NR_033437.2:n.3097G>A |