Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.77133441C>T , CM000669.2:g.77133441C>T | GRCh38 |
| NC_000007.13:g.76762758C>T , CM000669.1:g.76762758C>T | GRCh37 |
| NC_000007.12:g.76600694C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285871.5:c.-12+10709C>T MANE Select | ENSP00000285871.4:n.-12+10709C>T | |
| ENST00000285871.4:c.-12+10709C>T | ENSP00000285871.4:n.-12+10709C>T | |
| ENST00000415750.5:c.-12+10973C>T | ENSP00000388649.1:n.-12+10973C>T | |
| NM_020879.2:c.-12+10709C>T | NP_065930.2:n.-12+10709C>T | |
| XR_927691.1:n.48-4715G>A | ||
| NM_020879.3:c.-12+10709C>T MANE Select | NP_065930.2:n.-12+10709C>T |