Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62473486C>G , CM000682.2:g.62473486C>G | GRCh38 |
| NC_000020.10:g.61048542C>G , CM000682.1:g.61048542C>G | GRCh37 |
| NC_000020.9:g.60481937C>G | NCBI36 |
| NG_046963.1:g.7485G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080473.5:c.616G>C MANE Select | NP_536721.1:p.Gly206Arg |
| ENST00000252997.3:c.616G>C MANE Select | ENSP00000252997.2:p.Gly206Arg |
| NM_080473.4:c.616G>C | NP_536721.1:p.Gly206Arg |
| ENST00000252997.2:c.616G>C | ENSP00000252997.2:p.Gly206Arg |
| XM_006723699.2:c.616G>C | XP_006723762.1:p.Gly206Arg |
| XM_006723699.3:c.616G>C | XP_006723762.1:p.Gly206Arg |