Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65869956C>G , CM000673.2:g.65869956C>G | GRCh38 |
| NC_000011.9:g.65637427C>G , CM000673.1:g.65637427C>G | GRCh37 |
| NC_000011.8:g.65394003C>G | NCBI36 |
| NG_012304.2:g.7979G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016938.5:c.628G>C MANE Select | NP_058634.4:p.Gly210Arg |
| ENST00000307998.11:c.628G>C MANE Select | ENSP00000309953.6:p.Gly210Arg |
| NM_016938.4:c.628G>C | NP_058634.4:p.Gly210Arg |
| NR_037718.1:n.887G>C | |
| NR_037718.2:n.753G>C | |
| ENST00000307998.10:c.628G>C | ENSP00000309953.6:p.Gly210Arg |
| ENST00000527969.1:n.605G>C | |
| ENST00000528176.5:c.628G>C | ENSP00000434151.1:p.Gly210Arg |
| ENST00000531005.5:n.1622G>C | |
| ENST00000531972.5:c.628G>C | ENSP00000435295.1:p.Gly210Arg |
| ENST00000533347.5:c.*440G>C | ENSP00000435823.1:n.*440G>C |