Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50262168G>C , CM000680.2:g.50262168G>C | GRCh38 |
| NC_000018.9:g.47788538G>C , CM000680.1:g.47788538G>C | GRCh37 |
| NC_000018.8:g.46042536G>C | NCBI36 |
| NG_042815.1:g.9355C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145020.5:c.121C>G MANE Select | NP_659457.2:p.Arg41Gly |
| ENST00000398545.5:c.121C>G MANE Select | ENSP00000381553.3:p.Arg41Gly |
| NM_145020.3:c.121C>G | NP_659457.2:p.Arg41Gly |
| NM_145020.4:c.121C>G | NP_659457.2:p.Arg41Gly |
| ENST00000398545.4:c.121C>G | ENSP00000381553.3:p.Arg41Gly |