Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14506932C= , CM000674.2:g.14506932C= | GRCh38 |
| NC_000012.11:g.14659866C= , CM000674.1:g.14659866C= | GRCh37 |
| NC_000012.10:g.14551133C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1372+1G= MANE Select | ENSP00000240617.5:n.1372+1G= | |
| ENST00000240617.9:c.1372+1G= | ENSP00000240617.5:n.1372+1G= | |
| NM_024829.5:c.1372+1G= | NP_079105.4:n.1372+1G= | |
| NM_024829.6:c.1372+1G= MANE Select | NP_079105.4:n.1372+1G= |