Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659553A= , CM000665.2:g.180659553A= | GRCh38 |
| NC_000003.11:g.180377341A= , CM000665.1:g.180377341A= | GRCh37 |
| NC_000003.10:g.181860035A= | NCBI36 |
| NG_029581.1:g.24943T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.637T= MANE Select | ENSP00000417960.2:p.Phe213= | |
| ENST00000650641.1:n.716T= | ||
| ENST00000650889.1:n.809T= | ||
| ENST00000651046.1:c.637T= | ENSP00000499175.1:p.Phe213= | |
| ENST00000651818.1:n.779T= | ||
| ENST00000652024.1:n.728T= | ||
| ENST00000652408.1:n.774T= | ||
| ENST00000442201.6:c.637T= | ENSP00000405708.2:p.Phe213= | |
| ENST00000476379.5:c.637T= | ENSP00000417960.1:p.Phe213= | |
| NM_181426.1:c.637T= | NP_852091.1:p.Phe213= | |
| NM_181426.2:c.637T= MANE Select | NP_852091.1:p.Phe213= |