Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256063C>G , CM000676.2:g.24256063C>G | GRCh38 |
| NC_000014.8:g.24725269C>G , CM000676.1:g.24725269C>G | GRCh37 |
| NC_000014.7:g.23795109C>G | NCBI36 |
| NG_007150.1:g.12104G>C | |
| NG_007150.2:g.12104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1417G>C MANE Select | ENSP00000206765.6:p.Gly473Arg | |
| ENST00000206765.10:c.1417G>C | ENSP00000206765.6:p.Gly473Arg | |
| ENST00000544573.5:c.91G>C | ENSP00000439446.1:p.Gly31Arg | |
| ENST00000559136.1:c.490G>C | ENSP00000453337.1:p.Gly164Arg | |
| NM_000359.2:c.1417G>C | NP_000350.1:p.Gly473Arg | |
| NM_000359.3:c.1417G>C MANE Select | NP_000350.1:p.Gly473Arg |