Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22143914C>T , CM000663.2:g.22143914C>T | GRCh38 |
| NC_000001.10:g.22470407C>T , CM000663.1:g.22470407C>T | GRCh37 |
| NC_000001.9:g.22342994C>T | NCBI36 |
| NG_008974.1:g.4113G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000441048.1:c.-271G>A | ENSP00000388925.1:n.-271G>A |
| XM_011541598.1:c.-271G>A | XP_011539900.1:n.-271G>A |
| XM_011541598.2:c.-271G>A | XP_011539900.1:n.-271G>A |
| XR_001737923.1:n.52+923C>T | |
| XR_001737924.1:n.52+923C>T | |
| XR_001737925.1:n.52+923C>T | |
| XR_947049.1:n.82+1010C>T | |
| XR_947050.1:n.53+2909C>T | |
| XR_947051.1:n.47+923C>T | |
| XR_947051.2:n.52+923C>T | |
| XR_947053.1:n.82+1010C>T | |
| XR_947054.1:n.82+1010C>T | |
| XR_947055.1:n.82+1010C>T |