Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445678C>G , CM000663.2:g.15445678C>G | GRCh38 |
| NC_000001.10:g.15772173C>G , CM000663.1:g.15772173C>G | GRCh37 |
| NC_000001.9:g.15644760C>G | NCBI36 |
| NG_009253.1:g.12236C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.721C>G MANE Select | ENSP00000365116.4:p.Arg241Gly | |
| ENST00000375943.6:c.*175C>G | ENSP00000365110.2:n.*175C>G | |
| ENST00000375949.4:c.721C>G | ENSP00000365116.4:p.Arg241Gly | |
| ENST00000483406.1:n.485C>G | ||
| NM_007272.2:c.721C>G | NP_009203.2:p.Arg241Gly | |
| XM_011540550.1:c.575C>G | XP_011538852.1:p.Ala192Gly | |
| NM_007272.3:c.721C>G MANE Select | NP_009203.2:p.Arg241Gly |