Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.914504C>A , CM000667.2:g.914504C>A | GRCh38 |
| NC_000005.9:g.914619C>A , CM000667.1:g.914619C>A | GRCh37 |
| NC_000005.8:g.967619C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000166345.8:c.1060C>A MANE Select | ENSP00000166345.3:p.Arg354= | |
| ENST00000166345.7:c.1060C>A | ENSP00000166345.3:p.Arg354= | |
| NM_004237.3:c.1060C>A | NP_004228.1:p.Arg354= | |
| XM_011514163.1:c.1060C>A | XP_011512465.1:p.Arg354= | |
| XM_011514163.2:c.1060C>A | XP_011512465.1:p.Arg354= | |
| NM_004237.4:c.1060C>A MANE Select | NP_004228.1:p.Arg354= |