Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19517035C>A , CM000663.2:g.19517035C>A | GRCh38 |
| NC_000001.10:g.19843529C>A , CM000663.1:g.19843529C>A | GRCh37 |
| NC_000001.9:g.19716116C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648702.1:c.-54+32380C>A | ENSP00000497006.1:n.-54+32380C>A | |
| XR_947017.1:n.372+1048G>T | ||
| XR_947019.1:n.189-1086C>A | ||
| XR_947020.1:n.144-1086C>A | ||
| XR_001737920.1:n.144-1086C>A | ||
| XR_947017.2:n.1178+1048G>T | ||
| XR_947020.2:n.144-1086C>A |