Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94540363T>C , CM000663.2:g.94540363T>C | GRCh38 |
| NC_000001.10:g.95005919T>C , CM000663.1:g.95005919T>C | GRCh37 |
| NC_000001.9:g.94778507T>C | NCBI36 |
| NG_029366.1:g.6495A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001993.5:c.106A>G MANE Select | NP_001984.1:p.Thr36Ala |
| ENST00000334047.12:c.106A>G MANE Select | ENSP00000334145.7:p.Thr36Ala |
| NM_001178096.1:c.106A>G | NP_001171567.1:p.Thr36Ala |
| NM_001178096.2:c.106A>G | NP_001171567.1:p.Thr36Ala |
| NM_001993.4:c.106A>G | NP_001984.1:p.Thr36Ala |
| ENST00000334047.11:c.106A>G | ENSP00000334145.7:p.Thr36Ala |
| ENST00000370207.4:c.106A>G | ENSP00000359226.4:p.Thr36Ala |
| ENST00000480356.1:n.724A>G |