Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40200951A>G , CM000677.2:g.40200951A>G | GRCh38 |
| NC_000015.9:g.40493152A>G , CM000677.1:g.40493152A>G | GRCh37 |
| NC_000015.8:g.38280444A>G | NCBI36 |
| NG_016338.1:g.44943A>G , LRG_489:g.44943A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.1538A>G MANE Select | NP_001202.5:p.Asn513Ser |
| ENST00000287598.11:c.1538A>G MANE Select | ENSP00000287598.7:p.Asn513Ser |
| NM_001211.5:c.1538A>G , LRG_489t1:c.1538A>G | NP_001202.4:p.Asn513Ser |
| ENST00000287598.10:c.1538A>G | ENSP00000287598.6:p.Asn513Ser |
| ENST00000412359.7:c.1580A>G | ENSP00000398470.3:p.Asn527Ser |
| ENST00000558972.1:n.343A>G | |
| ENST00000559733.5:c.650A>G | |
| XR_001751506.1:n.218-20750T>C |