Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47290243A>G , CM000679.2:g.47290243A>G | GRCh38 |
| NC_000017.10:g.45367609A>G , CM000679.1:g.45367609A>G | GRCh37 |
| NC_000017.9:g.42722608A>G | NCBI36 |
| NG_008332.2:g.41402A>G , LRG_481:g.41402A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.1094A>G MANE Select | NP_000203.2:p.Asn365Ser |
| ENST00000559488.7:c.1094A>G MANE Select | ENSP00000452786.2:p.Asn365Ser |
| NM_000212.2:c.1094A>G , LRG_481t1:c.1094A>G | NP_000203.2:p.Asn365Ser |
| ENST00000559488.5:c.1094A>G | ENSP00000452786.1:p.Asn365Ser |
| ENST00000560629.1:c.1059A>G | |
| ENST00000571680.1:c.1094A>G | ENSP00000461626.1:p.Asn365Ser |
| ENST00000696963.1:c.1094A>G | ENSP00000513002.1:p.Asn365Ser |