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