Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128301395G>C , CM000667.2:g.128301395G>C | GRCh38 |
| NC_000005.9:g.127637087G>C , CM000667.1:g.127637087G>C | GRCh37 |
| NC_000005.8:g.127664986G>C | NCBI36 |
| NG_008750.1:g.241649C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6033C>G MANE Select | NP_001990.2:p.Gly2011= |
| ENST00000262464.9:c.6033C>G MANE Select | ENSP00000262464.4:p.Gly2011= |
| NM_001999.3:c.6033C>G | NP_001990.2:p.Gly2011= |
| ENST00000262464.8:c.6033C>G | ENSP00000262464.4:p.Gly2011= |
| ENST00000508053.5:c.6033C>G | ENSP00000424571.1:p.Gly2011= |
| ENST00000619499.4:c.6030C>G | ENSP00000482132.1:p.Gly2010= |
| ENST00000703783.1:n.2817C>G | |
| ENST00000703785.1:n.2736C>G | |
| XM_017009228.2:c.5880C>G | XP_016864717.1:p.Gly1960= |