Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154720C= , CM000681.2:g.55154720C= | GRCh38 |
| NC_000019.9:g.55666088C= , CM000681.1:g.55666088C= | GRCh37 |
| NC_000019.8:g.60357900C= | NCBI36 |
| NG_007866.2:g.8013G= , LRG_432:g.8013G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.372+21G= MANE Select | ENSP00000341838.5:n.372+21G= | |
| ENST00000665070.1:c.393G= | ENSP00000499482.1:p.Ser131= | |
| ENST00000344887.9:c.372+21G= | ENSP00000341838.5:n.372+21G= | |
| ENST00000585806.5:n.371+21G= | ||
| ENST00000586669.5:n.380+21G= | ||
| ENST00000587176.5:n.577G= | ||
| ENST00000588882.1:c.297+21G= | ENSP00000466729.1:n.297+21G= | |
| NM_000363.4:c.372+21G= , LRG_432t1:c.372+21G= | NP_000354.4:n.372+21G= | |
| NM_000363.5:c.372+21G= MANE Select | NP_000354.4:n.372+21G= |