HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107709806C>G , CM000669.2:g.107709806C>G | GRCh38 |
NC_000007.13:g.107350251C>G , CM000669.1:g.107350251C>G | GRCh37 |
NC_000007.12:g.107137487C>G | NCBI36 |
NG_008489.1:g.54172C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.2090-248C>G MANE Select | ENSP00000494017.1:n.2090-248C>G | |
ENST00000644846.1:c.746-248C>G | ||
ENST00000265715.7:c.2090-248C>G | ENSP00000265715.3:n.2090-248C>G | |
ENST00000492030.2:n.377-349C>G | ||
NM_000441.1:c.2090-248C>G | NP_000432.1:n.2090-248C>G | |
XM_005250425.1:c.2090-248C>G | XP_005250482.1:n.2090-248C>G | |
XM_005250425.2:c.2090-248C>G | XP_005250482.1:n.2090-248C>G | |
XM_017012318.1:c.2012-248C>G | XP_016867807.1:n.2012-248C>G | |
NM_000441.2:c.2090-248C>G MANE Select | NP_000432.1:n.2090-248C>G |