Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180661868T>C , CM000665.2:g.180661868T>C | GRCh38 |
| NC_000003.11:g.180379656T>C , CM000665.1:g.180379656T>C | GRCh37 |
| NC_000003.10:g.181862350T>C | NCBI36 |
| NG_029581.1:g.22628A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.350A>G MANE Select | NP_852091.1:p.Asp117Gly |
| ENST00000476379.6:c.350A>G MANE Select | ENSP00000417960.2:p.Asp117Gly |
| NM_181426.1:c.350A>G | NP_852091.1:p.Asp117Gly |
| ENST00000442201.6:c.350A>G | ENSP00000405708.2:p.Asp117Gly |
| ENST00000476379.5:c.350A>G | ENSP00000417960.1:p.Asp117Gly |
| ENST00000650641.1:n.429A>G | |
| ENST00000650889.1:n.522A>G | |
| ENST00000651046.1:c.350A>G | ENSP00000499175.1:p.Asp117Gly |
| ENST00000651818.1:n.492A>G | |
| ENST00000652024.1:n.441A>G | |
| ENST00000652408.1:n.487A>G |