Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1216811G>C , CM000667.2:g.1216811G>C | GRCh38 |
| NC_000005.9:g.1216926G>C , CM000667.1:g.1216926G>C | GRCh37 |
| NC_000005.8:g.1269926G>C | NCBI36 |
| NG_008282.1:g.20217G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.1039G>C MANE Select | NP_001003841.1:p.Gly347Arg |
| ENST00000304460.11:c.1039G>C MANE Select | ENSP00000305302.10:p.Gly347Arg |
| NM_001003841.2:c.1039G>C | NP_001003841.1:p.Gly347Arg |
| ENST00000304460.10:c.1039G>C | ENSP00000305302.10:p.Gly347Arg |
| ENST00000515652.5:c.1049G>C | ENSP00000425701.1:p.Arg350Pro |