Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930052G>A , CM000685.2:g.119930052G>A | GRCh38 |
| NC_000023.10:g.119064015G>A , CM000685.1:g.119064015G>A | GRCh37 |
| NC_000023.9:g.118948043G>A | NCBI36 |
| NG_021260.1:g.18721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1037C>T MANE Select | ENSP00000360464.3:p.Ser346Leu | |
| ENST00000652253.1:c.1033C>T | ||
| ENST00000371410.4:c.1037C>T | ENSP00000360464.3:p.Ser346Leu | |
| ENST00000477789.5:n.1965C>T | ||
| NM_024528.3:c.1037C>T | NP_078804.2:p.Ser346Leu | |
| XM_017029842.1:c.740C>T | XP_016885331.1:p.Ser247Leu | |
| NM_024528.4:c.1037C>T MANE Select | NP_078804.2:p.Ser346Leu |