Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19517082A>T , CM000663.2:g.19517082A>T | GRCh38 |
| NC_000001.10:g.19843576A>T , CM000663.1:g.19843576A>T | GRCh37 |
| NC_000001.9:g.19716163A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648702.1:c.-54+32427A>T | ENSP00000497006.1:n.-54+32427A>T | |
| XR_947017.1:n.372+1001T>A | ||
| XR_947019.1:n.189-1039A>T | ||
| XR_947020.1:n.144-1039A>T | ||
| XR_001737920.1:n.144-1039A>T | ||
| XR_947017.2:n.1178+1001T>A | ||
| XR_947020.2:n.144-1039A>T |