dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19534612A>T , CM000663.2:g.19534612A>T | GRCh38 |
| NC_000001.10:g.19861106A>T , CM000663.1:g.19861106A>T | GRCh37 |
| NC_000001.9:g.19733693A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648702.1:c.-54+49957A>T | ENSP00000497006.1:n.-54+49957A>T |