Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38080367T>A , CM000664.2:g.38080367T>A | GRCh38 |
| NC_000002.11:g.38307509T>A , CM000664.1:g.38307509T>A | GRCh37 |
| NC_000002.10:g.38161013T>A | NCBI36 |
| NG_008386.2:g.735A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494864.1:c.-70-9057A>T | ENSP00000479876.1:n.-70-9057A>T | |
| XM_011533236.1:c.1174+3807T>A | XP_011531538.1:n.1174+3807T>A |