Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420697C>G , CM000666.2:g.99420697C>G | GRCh38 |
| NC_000004.11:g.100341854C>G , CM000666.1:g.100341854C>G | GRCh37 |
| NC_000004.10:g.100560877C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.661G>C MANE Select | ENSP00000414254.2:p.Gly221Arg | |
| ENST00000209665.8:c.697G>C | ENSP00000209665.4:p.Gly233Arg | |
| ENST00000437033.6:c.661G>C | ENSP00000414254.2:p.Gly221Arg | |
| ENST00000476959.5:c.721G>C | ENSP00000420269.1:p.Gly241Arg | |
| ENST00000482593.5:c.490G>C | ENSP00000420613.1:p.Gly164Arg | |
| NM_000673.4:c.697G>C | NP_000664.2:p.Gly233Arg | |
| NM_001166504.1:c.721G>C | NP_001159976.1:p.Gly241Arg | |
| NM_000673.7:c.661G>C MANE Select | NP_000664.3:p.Gly221Arg | |
| NM_001166504.2:c.721G>C | NP_001159976.1:p.Gly241Arg |