Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1212461C>G , CM000667.2:g.1212461C>G | GRCh38 |
| NC_000005.9:g.1212576C>G , CM000667.1:g.1212576C>G | GRCh37 |
| NC_000005.8:g.1265576C>G | NCBI36 |
| NG_008282.1:g.15867C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.640C>G MANE Select | NP_001003841.1:p.Arg214Gly |
| ENST00000304460.11:c.640C>G MANE Select | ENSP00000305302.10:p.Arg214Gly |
| NM_001003841.2:c.640C>G | NP_001003841.1:p.Arg214Gly |
| ENST00000304460.10:c.640C>G | ENSP00000305302.10:p.Arg214Gly |
| ENST00000515652.5:c.548C>G | ENSP00000425701.1:p.Pro183Arg |