Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005500G>C , CM000663.2:g.94005500G>C | GRCh38 |
| NC_000001.10:g.94471056G>C , CM000663.1:g.94471056G>C | GRCh37 |
| NC_000001.9:g.94243644G>C | NCBI36 |
| NG_009073.1:g.120650C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6088C>G MANE Select | NP_000341.2:p.Arg2030Gly |
| ENST00000370225.4:c.6088C>G MANE Select | ENSP00000359245.3:p.Arg2030Gly |
| NM_000350.2:c.6088C>G | NP_000341.2:p.Arg2030Gly |
| ENST00000370225.3:c.6088C>G | ENSP00000359245.3:p.Arg2030Gly |
| ENST00000465352.1:n.504C>G | |
| ENST00000484388.1:n.202C>G | |
| ENST00000536513.5:c.2464C>G | ENSP00000439707.2:p.Arg822Gly |