Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74006209A>G , CM000673.2:g.74006209A>G | GRCh38 |
| NC_000011.9:g.73717254A>G , CM000673.1:g.73717254A>G | GRCh37 |
| NC_000011.8:g.73394902A>G | NCBI36 |
| NG_011515.1:g.8029T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003356.4:c.297T>C MANE Select | NP_003347.1:p.Tyr99= |
| ENST00000314032.9:c.297T>C MANE Select | ENSP00000323740.4:p.Tyr99= |
| NM_003356.3:c.297T>C | NP_003347.1:p.Tyr99= |
| NM_022803.2:c.297T>C | NP_073714.1:p.Tyr99= |
| NM_022803.3:c.297T>C | NP_073714.1:p.Tyr99= |
| ENST00000314032.8:c.297T>C | ENSP00000323740.4:p.Tyr99= |
| ENST00000426995.2:c.297T>C | ENSP00000392143.2:p.Tyr99= |
| XR_950298.1:n.1768+10175A>G |