Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391972C= , CM000669.2:g.98391972C= | GRCh38 |
| NC_000007.13:g.98021284C= , CM000669.1:g.98021284C= | GRCh37 |
| NC_000007.12:g.97859220C= | NCBI36 |
| NG_013090.1:g.14144G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+8830G= MANE Select | ENSP00000005260.8:n.51+8830G= | |
| ENST00000005260.8:c.51+8830G= | ENSP00000005260.8:n.51+8830G= | |
| ENST00000462558.5:n.267+8830G= | ||
| ENST00000479789.1:n.357+8009G= | ||
| NM_018842.4:c.51+8830G= | NP_061330.2:n.51+8830G= | |
| NM_018842.5:c.51+8830G= MANE Select | NP_061330.2:n.51+8830G= |