Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019690G>C , CM000663.2:g.94019690G>C | GRCh38 |
| NC_000001.10:g.94485246G>C , CM000663.1:g.94485246G>C | GRCh37 |
| NC_000001.9:g.94257834G>C | NCBI36 |
| NG_009073.1:g.106460C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5088C>G MANE Select | NP_000341.2:p.Ser1696Arg |
| ENST00000370225.4:c.5088C>G MANE Select | ENSP00000359245.3:p.Ser1696Arg |
| NM_000350.2:c.5088C>G | NP_000341.2:p.Ser1696Arg |
| ENST00000370225.3:c.5088C>G | ENSP00000359245.3:p.Ser1696Arg |
| ENST00000460514.1:n.582C>G | |
| ENST00000470771.1:n.198C>G | |
| ENST00000536513.5:c.1464C>G | ENSP00000439707.2:p.Ser488Arg |