Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154723G= , CM000681.2:g.55154723G= | GRCh38 |
| NC_000019.9:g.55666091G= , CM000681.1:g.55666091G= | GRCh37 |
| NC_000019.8:g.60357903G= | NCBI36 |
| NG_007866.2:g.8010C= , LRG_432:g.8010C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.372+18C= MANE Select | ENSP00000341838.5:n.372+18C= | |
| ENST00000665070.1:c.390C= | ENSP00000499482.1:p.Ser130= | |
| ENST00000344887.9:c.372+18C= | ENSP00000341838.5:n.372+18C= | |
| ENST00000585806.5:n.371+18C= | ||
| ENST00000586669.5:n.380+18C= | ||
| ENST00000587176.5:n.574C= | ||
| ENST00000588882.1:c.297+18C= | ENSP00000466729.1:n.297+18C= | |
| NM_000363.4:c.372+18C= , LRG_432t1:c.372+18C= | NP_000354.4:n.372+18C= | |
| NM_000363.5:c.372+18C= MANE Select | NP_000354.4:n.372+18C= |