Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965562A>G , CM000663.2:g.11965562A>G | GRCh38 |
| NC_000001.10:g.12025619A>G , CM000663.1:g.12025619A>G | GRCh37 |
| NC_000001.9:g.11948206A>G | NCBI36 |
| NG_008159.1:g.35874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1553A>G MANE Select | ENSP00000196061.4:p.Asn518Ser | |
| ENST00000196061.4:c.1553A>G | ENSP00000196061.4:p.Asn518Ser | |
| ENST00000470133.1:n.167A>G | ||
| ENST00000491536.5:n.181A>G | ||
| NM_000302.3:c.1553A>G | NP_000293.2:p.Asn518Ser | |
| NM_001316320.1:c.1694A>G | NP_001303249.1:p.Asn565Ser | |
| XM_011541594.1:c.1634A>G | XP_011539896.1:p.Asn545Ser | |
| XM_024447707.1:c.887A>G | XP_024303475.1:p.Asn296Ser | |
| NM_000302.4:c.1553A>G MANE Select | NP_000293.2:p.Asn518Ser | |
| NM_001316320.2:c.1694A>G | NP_001303249.1:p.Asn565Ser |