Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168305136C>G , CM000663.2:g.168305136C>G | GRCh38 |
| NC_000001.10:g.168274374C>G , CM000663.1:g.168274374C>G | GRCh37 |
| NC_000001.9:g.166540998C>G | NCBI36 |
| NG_008244.1:g.29097C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005149.3:c.856C>G MANE Select | NP_005140.1:p.Arg286Gly |
| ENST00000367821.8:c.856C>G MANE Select | ENSP00000356795.3:p.Arg286Gly |
| NM_005149.2:c.856C>G | NP_005140.1:p.Arg286Gly |
| ENST00000367821.7:c.856C>G | ENSP00000356795.3:p.Arg286Gly |
| ENST00000431969.5:c.525-3606C>G | |
| ENST00000441464.1:c.353C>G |