Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63774394G>A , CM000663.2:g.63774394G>A | GRCh38 |
| NC_000001.10:g.64240065G>A , CM000663.1:g.64240065G>A | GRCh37 |
| NC_000001.9:g.64012653G>A | NCBI36 |
| NG_032801.1:g.5376G>A | |
| NG_032801.2:g.5376G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005012.4:c.-24G>A MANE Select | NP_005003.2:n.-24G>A |
| ENST00000371079.6:c.-24G>A MANE Select | ENSP00000360120.1:n.-24G>A |
| NM_001083592.1:c.-24G>A | NP_001077061.1:n.-24G>A |
| NM_001083592.2:c.-24G>A | NP_001077061.1:n.-24G>A |
| NM_005012.3:c.-24G>A | NP_005003.2:n.-24G>A |
| ENST00000371079.5:c.-24G>A | ENSP00000360120.1:n.-24G>A |
| ENST00000371080.5:c.-24G>A | ENSP00000360121.1:n.-24G>A |