Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965516G>C , CM000663.2:g.11965516G>C | GRCh38 |
| NC_000001.10:g.12025573G>C , CM000663.1:g.12025573G>C | GRCh37 |
| NC_000001.9:g.11948160G>C | NCBI36 |
| NG_008159.1:g.35828G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1507G>C MANE Select | ENSP00000196061.4:p.Gly503Arg | |
| ENST00000196061.4:c.1507G>C | ENSP00000196061.4:p.Gly503Arg | |
| ENST00000470133.1:n.121G>C | ||
| ENST00000491536.5:n.135G>C | ||
| NM_000302.3:c.1507G>C | NP_000293.2:p.Gly503Arg | |
| NM_001316320.1:c.1648G>C | NP_001303249.1:p.Gly550Arg | |
| XM_011541594.1:c.1588G>C | XP_011539896.1:p.Gly530Arg | |
| XM_024447707.1:c.841G>C | XP_024303475.1:p.Gly281Arg | |
| NM_000302.4:c.1507G>C MANE Select | NP_000293.2:p.Gly503Arg | |
| NM_001316320.2:c.1648G>C | NP_001303249.1:p.Gly550Arg |