Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38076389G>A , CM000664.2:g.38076389G>A | GRCh38 |
| NC_000002.11:g.38303531G>A , CM000664.1:g.38303531G>A | GRCh37 |
| NC_000002.10:g.38157035G>A | NCBI36 |
| NG_008386.2:g.4713C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000494864.1:c.-70-5079C>T | ENSP00000479876.1:n.-70-5079C>T |
| XM_011533236.1:c.1003G>A | XP_011531538.1:p.Glu335Lys |