Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165148C>G , CM000677.2:g.40165148C>G | GRCh38 |
| NC_000015.9:g.40457349C>G , CM000677.1:g.40457349C>G | GRCh37 |
| NC_000015.8:g.38244641C>G | NCBI36 |
| NG_016338.1:g.9140C>G , LRG_489:g.9140C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.131C>G MANE Select | NP_001202.5:p.Ala44Gly |
| ENST00000287598.11:c.131C>G MANE Select | ENSP00000287598.7:p.Ala44Gly |
| NM_001211.5:c.131C>G , LRG_489t1:c.131C>G | NP_001202.4:p.Ala44Gly |
| ENST00000287598.10:c.131C>G | ENSP00000287598.6:p.Ala44Gly |
| ENST00000412359.7:c.131C>G | ENSP00000398470.3:p.Ala44Gly |
| ENST00000558715.5:c.131C>G | ENSP00000453861.1:p.Ala44Gly |
| ENST00000559414.5:n.309C>G | |
| ENST00000560120.5:n.233+3893C>G |