HGVS | Genome Assembly |
---|---|
NC_000015.10:g.66703181C>G , CM000677.2:g.66703181C>G | GRCh38 |
NC_000015.9:g.66995519C>G , CM000677.1:g.66995519C>G | GRCh37 |
NC_000015.8:g.64782573C>G | NCBI36 |
NG_012244.1:g.5846C>G | |
NG_012244.2:g.5846C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288840.10:c.-78C>G MANE Select | ENSP00000288840.5:n.-78C>G | |
ENST00000288840.9:c.-78C>G | ENSP00000288840.5:n.-78C>G | |
ENST00000612349.1:n.105C>G | ||
NM_005585.4:c.-78C>G | NP_005576.3:n.-78C>G | |
NR_027654.1:n.846C>G | ||
XR_931825.1:n.1082C>G | ||
XR_931826.1:n.1082C>G | ||
XR_931827.1:n.1082C>G | ||
XR_931827.2:n.1072C>G | ||
NM_005585.5:c.-78C>G MANE Select | NP_005576.3:n.-78C>G | |
NR_027654.2:n.946C>G |