HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041909C>G , CM000674.2:g.56041909C>G | GRCh38 |
NC_000012.11:g.56435693C>G , CM000674.1:g.56435693C>G | GRCh37 |
NC_000012.10:g.54721960C>G | NCBI36 |
NG_023201.1:g.5008C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-258C>G | ENSP00000348849.5:n.-258C>G | |
ENST00000356464.9:c.-258C>G | ENSP00000348849.5:n.-258C>G | |
ENST00000552361.1:c.-190C>G | ENSP00000450339.1:n.-190C>G | |
NM_001029.3:c.-258C>G | NP_001020.2:n.-258C>G | |
XR_944989.3:n.95G>C | ||
XR_944990.3:n.95G>C |