Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17118218C>T , CM000663.2:g.17118218C>T | GRCh38 |
| NC_000001.10:g.17444713C>T , CM000663.1:g.17444713C>T | GRCh37 |
| NC_000001.9:g.17317300C>T | NCBI36 |
| NG_033958.1:g.6236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375486.9:c.92+1062G>A MANE Select | ENSP00000364635.4:n.92+1062G>A | |
| ENST00000375481.1:c.92+1062G>A | ENSP00000364630.1:n.92+1062G>A | |
| ENST00000375486.8:c.92+1062G>A | ENSP00000364635.4:n.92+1062G>A | |
| NM_007365.2:c.92+1062G>A | NP_031391.2:n.92+1062G>A | |
| XM_011540549.1:c.92+1062G>A | XP_011538851.1:n.92+1062G>A | |
| XR_947004.1:n.4794C>T | ||
| XR_001736944.1:n.174+1062G>A | ||
| NM_007365.3:c.92+1062G>A MANE Select | NP_031391.2:n.92+1062G>A |