Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38806033T>A , CM000666.2:g.38806033T>A | GRCh38 |
| NC_000004.11:g.38807654T>A , CM000666.1:g.38807654T>A | GRCh37 |
| NC_000004.10:g.38484049T>A | NCBI36 |
| NG_016228.1:g.3759A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506146.5:c.-352-840A>T | ENSP00000423725.1:n.-352-840A>T | |
| XM_024454199.1:c.-843A>T | XP_024309967.1:n.-843A>T |