Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659767T>G , CM000665.2:g.180659767T>G | GRCh38 |
| NC_000003.11:g.180377555T>G , CM000665.1:g.180377555T>G | GRCh37 |
| NC_000003.10:g.181860249T>G | NCBI36 |
| NG_029581.1:g.24729A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.519A>C MANE Select | ENSP00000417960.2:p.Ala173= | |
| ENST00000650641.1:n.598A>C | ||
| ENST00000650889.1:n.691A>C | ||
| ENST00000651046.1:c.519A>C | ENSP00000499175.1:p.Ala173= | |
| ENST00000651818.1:n.661A>C | ||
| ENST00000652024.1:n.610A>C | ||
| ENST00000652408.1:n.656A>C | ||
| ENST00000442201.6:c.519A>C | ENSP00000405708.2:p.Ala173= | |
| ENST00000476379.5:c.519A>C | ENSP00000417960.1:p.Ala173= | |
| NM_181426.1:c.519A>C | NP_852091.1:p.Ala173= | |
| NM_181426.2:c.519A>C MANE Select | NP_852091.1:p.Ala173= |