Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124745924A>G , CM000665.2:g.124745924A>G | GRCh38 |
| NC_000003.11:g.124464771A>G , CM000665.1:g.124464771A>G | GRCh37 |
| NC_000003.10:g.125947461A>G | NCBI36 |
| NG_017037.1:g.20559A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000373.4:c.*1840A>G MANE Select | NP_000364.1:n.*1840A>G |
| ENST00000232607.7:c.*1840A>G MANE Select | ENSP00000232607.2:n.*1840A>G |
| NM_000373.3:c.*1840A>G | NP_000364.1:n.*1840A>G |
| NR_033434.1:n.3235A>G | |
| NR_033434.2:n.3149A>G | |
| NR_033437.1:n.3488A>G | |
| NR_033437.2:n.3402A>G | |
| ENST00000232607.6:c.*1840A>G | ENSP00000232607.2:n.*1840A>G |
| XR_001740253.2:n.3517A>G |