Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047070G>C , CM000663.2:g.94047070G>C | GRCh38 |
| NC_000001.10:g.94512626G>C , CM000663.1:g.94512626G>C | GRCh37 |
| NC_000001.9:g.94285214G>C | NCBI36 |
| NG_009073.1:g.79080C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2767C>G MANE Select | ENSP00000359245.3:p.Pro923Ala | |
| ENST00000649773.1:c.2545C>G | ENSP00000496882.1:p.Pro849Ala | |
| ENST00000370225.3:c.2767C>G | ENSP00000359245.3:p.Pro923Ala | |
| ENST00000536513.5:c.-64-6981C>G | ENSP00000439707.2:n.-64-6981C>G | |
| NM_000350.2:c.2767C>G | NP_000341.2:p.Pro923Ala | |
| NM_000350.3:c.2767C>G MANE Select | NP_000341.2:p.Pro923Ala |