Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124746315G>A , CM000665.2:g.124746315G>A | GRCh38 |
| NC_000003.11:g.124465162G>A , CM000665.1:g.124465162G>A | GRCh37 |
| NC_000003.10:g.125947852G>A | NCBI36 |
| NG_017037.1:g.20950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*2231G>A MANE Select | ENSP00000232607.2:n.*2231G>A | |
| ENST00000232607.6:c.*2231G>A | ENSP00000232607.2:n.*2231G>A | |
| NM_000373.3:c.*2231G>A | NP_000364.1:n.*2231G>A | |
| NR_033434.1:n.3626G>A | ||
| NR_033437.1:n.3879G>A | ||
| XR_001740253.2:n.3908G>A | ||
| NM_000373.4:c.*2231G>A MANE Select | NP_000364.1:n.*2231G>A | |
| NR_033434.2:n.3540G>A | ||
| NR_033437.2:n.3793G>A |