Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125866G>C , CM000665.2:g.49125866G>C | GRCh38 |
| NC_000003.11:g.49163299G>C , CM000665.1:g.49163299G>C | GRCh37 |
| NC_000003.10:g.49138303G>C | NCBI36 |
| NG_008094.1:g.12301C>G | |
| NG_054716.1:g.73C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.2369C>G MANE Select | NP_002283.3:p.Ser790Ter |
| ENST00000305544.9:c.2369C>G MANE Select | ENSP00000307156.4:p.Ser790Ter |
| NM_002292.3:c.2369C>G | NP_002283.3:p.Ser790Ter |
| ENST00000305544.8:c.2369C>G | ENSP00000307156.4:p.Ser790Ter |
| ENST00000418109.5:c.2369C>G | ENSP00000388325.1:p.Ser790Ter |
| ENST00000477701.1:n.242C>G | |
| ENST00000486298.5:n.425+101C>G | |
| ENST00000493571.1:n.279C>G | |
| XM_005265127.3:c.2369C>G | XP_005265184.1:p.Ser790Ter |
| XM_005265127.4:c.2369C>G | XP_005265184.1:p.Ser790Ter |