HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193122032C>G , CM000663.2:g.193122032C>G | GRCh38 |
NC_000001.10:g.193091162C>G , CM000663.1:g.193091162C>G | GRCh37 |
NC_000001.9:g.191357785C>G | NCBI36 |
NG_012691.1:g.5075C>G , LRG_507:g.5075C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367435.5:c.-169C>G MANE Select | ENSP00000356405.4:n.-169C>G | |
ENST00000643006.1:c.-169C>G | ENSP00000496633.1:n.-169C>G | |
ENST00000649895.1:n.50C>G | ||
ENST00000367435.3:c.-169C>G | ENSP00000356405.3:n.-169C>G | |
NM_024529.4:c.-169C>G , LRG_507t1:c.-169C>G | NP_078805.3:n.-169C>G | |
XM_006711537.4:c.-169C>G | XP_006711600.1:n.-169C>G | |
XR_001738350.1:n.1625G>C | ||
NM_024529.5:c.-169C>G MANE Select | NP_078805.3:n.-169C>G |