Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930021A= , CM000685.2:g.119930021A= | GRCh38 |
| NC_000023.10:g.119063984A= , CM000685.1:g.119063984A= | GRCh37 |
| NC_000023.9:g.118948012A= | NCBI36 |
| NG_021260.1:g.18752T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.1068T= MANE Select | ENSP00000360464.3:p.Gly356= | |
| ENST00000652253.1:c.1064T= | ||
| ENST00000371410.4:c.1068T= | ENSP00000360464.3:p.Gly356= | |
| ENST00000477789.5:n.1996T= | ||
| NM_024528.3:c.1068T= | NP_078804.2:p.Gly356= | |
| XM_017029842.1:c.771T= | XP_016885331.1:p.Gly257= | |
| NM_024528.4:c.1068T= MANE Select | NP_078804.2:p.Gly356= |