Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2455540A>G , CM000678.2:g.2455540A>G | GRCh38 |
| NC_000016.9:g.2505541A>G , CM000678.1:g.2505541A>G | GRCh37 |
| NC_000016.8:g.2445542A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001761.3:c.1861A>G MANE Select | NP_001752.2:p.Ser621Gly |
| ENST00000397066.9:c.1861A>G MANE Select | ENSP00000380256.4:p.Ser621Gly |
| NM_001323538.1:c.937A>G | NP_001310467.1:p.Ser313Gly |
| NM_001323538.2:c.937A>G | NP_001310467.1:p.Ser313Gly |
| NM_001761.2:c.1861A>G | NP_001752.2:p.Ser621Gly |
| ENST00000293968.11:c.*1574A>G | ENSP00000293968.7:n.*1574A>G |
| ENST00000397066.8:c.1861A>G | ENSP00000380256.4:p.Ser621Gly |
| XR_933004.1:n.545+1294T>C |