Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190321A>T , CM000663.2:g.204190321A>T | GRCh38 |
| NC_000001.10:g.204159449A>T , CM000663.1:g.204159449A>T | GRCh37 |
| NC_000001.9:g.202426072A>T | NCBI36 |
| NG_032151.1:g.11171T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638118.1:c.-300T>A | ENSP00000490307.1:n.-300T>A |