Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045378G= , CM000672.2:g.114045378G= | GRCh38 |
| NC_000010.10:g.115805137G= , CM000672.1:g.115805137G= | GRCh37 |
| NC_000010.9:g.115795127G= | NCBI36 |
| NG_012187.1:g.6332G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1246G= MANE Select | ENSP00000358301.2:p.Ala416= | |
| ENST00000369295.3:c.1246G= | ENSP00000358301.2:p.Ala416= | |
| NM_000684.2:c.1246G= | NP_000675.1:p.Ala416= | |
| NM_000684.3:c.1246G= MANE Select | NP_000675.1:p.Ala416= |