Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124745212G>T , CM000665.2:g.124745212G>T | GRCh38 |
| NC_000003.11:g.124464059G>T , CM000665.1:g.124464059G>T | GRCh37 |
| NC_000003.10:g.125946749G>T | NCBI36 |
| NG_017037.1:g.19847G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*1128G>T MANE Select | ENSP00000232607.2:n.*1128G>T | |
| ENST00000232607.6:c.*1128G>T | ENSP00000232607.2:n.*1128G>T | |
| NM_000373.3:c.*1128G>T | NP_000364.1:n.*1128G>T | |
| NR_033434.1:n.2523G>T | ||
| NR_033437.1:n.2776G>T | ||
| XR_001740253.2:n.2805G>T | ||
| NM_000373.4:c.*1128G>T MANE Select | NP_000364.1:n.*1128G>T | |
| NR_033434.2:n.2437G>T | ||
| NR_033437.2:n.2690G>T |