Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341443G= , CM000665.2:g.122341443G= | GRCh38 |
| NC_000003.11:g.122060290G= , CM000665.1:g.122060290G= | GRCh37 |
| NC_000003.10:g.123542980G= | NCBI36 |
| NG_027995.1:g.21280G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.173G= MANE Select | ENSP00000264474.3:p.Arg58= | |
| ENST00000264474.3:c.173G= | ENSP00000264474.3:p.Arg58= | |
| NM_005213.3:c.173G= | NP_005204.1:p.Arg58= | |
| NM_005213.4:c.173G= MANE Select | NP_005204.1:p.Arg58= |