HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57585407C>G , CM000674.2:g.57585407C>G | GRCh38 |
NC_000012.11:g.57979190C>G , CM000674.1:g.57979190C>G | GRCh37 |
NC_000012.10:g.56265457C>G | NCBI36 |
NG_008155.1:g.40344C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000455537.7:c.*1226C>G MANE Select | ENSP00000408979.2:n.*1226C>G | |
ENST00000674619.1:c.*1226C>G | ENSP00000502270.1:n.*1226C>G | |
ENST00000674980.1:c.393C>G | ||
ENST00000675433.1:c.116-199C>G | ||
ENST00000675737.1:n.2849C>G | ||
ENST00000675882.1:n.4319C>G | ||
ENST00000676437.1:c.2823C>G | ||
ENST00000676457.1:c.*1226C>G | ENSP00000501588.1:n.*1226C>G | |
ENST00000455537.6:c.*1226C>G | ENSP00000408979.2:n.*1226C>G | |
NM_001354705.1:c.*1226C>G | NP_001341634.1:n.*1226C>G | |
NM_004984.3:c.*1226C>G | NP_004975.2:n.*1226C>G | |
XR_002957324.1:n.5029C>G | ||
NM_004984.4:c.*1226C>G MANE Select | NP_004975.2:n.*1226C>G | |
NM_001354705.2:c.*1226C>G | NP_001341634.1:n.*1226C>G |