HGVS | Genome Assembly |
---|---|
NC_000007.14:g.77133443T>C , CM000669.2:g.77133443T>C | GRCh38 |
NC_000007.13:g.76762760T>C , CM000669.1:g.76762760T>C | GRCh37 |
NC_000007.12:g.76600696T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285871.5:c.-12+10711T>C MANE Select | ENSP00000285871.4:n.-12+10711T>C | |
ENST00000285871.4:c.-12+10711T>C | ENSP00000285871.4:n.-12+10711T>C | |
ENST00000415750.5:c.-12+10975T>C | ENSP00000388649.1:n.-12+10975T>C | |
NM_020879.2:c.-12+10711T>C | NP_065930.2:n.-12+10711T>C | |
XR_927691.1:n.48-4717A>G | ||
NM_020879.3:c.-12+10711T>C MANE Select | NP_065930.2:n.-12+10711T>C |