Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38076389G= , CM000664.2:g.38076389G= | GRCh38 |
| NC_000002.11:g.38303531G= , CM000664.1:g.38303531G= | GRCh37 |
| NC_000002.10:g.38157035G= | NCBI36 |
| NG_008386.2:g.4713C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000494864.1:c.-70-5079C= | ENSP00000479876.1:n.-70-5079C= |
| XM_011533236.1:c.1003G= | XP_011531538.1:p.Glu335= |