HGVS | Genome Assembly |
---|---|
NC_000006.12:g.21065218C>A , CM000668.2:g.21065218C>A | GRCh38 |
NC_000006.11:g.21065449C>A , CM000668.1:g.21065449C>A | GRCh37 |
NC_000006.10:g.21173428C>A | NCBI36 |
NG_021195.1:g.535762C>A | |
NG_021195.2:g.535762C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274695.8:c.1226C>A MANE Select | ENSP00000274695.4:p.Pro409Gln | |
ENST00000378610.1:c.1226C>A | ENSP00000367873.1:p.Pro409Gln | |
NM_017774.3:c.1226C>A MANE Select | NP_060244.2:p.Pro409Gln | |
XM_006715128.2:c.1226C>A | XP_006715191.1:p.Pro409Gln | |
XM_011514718.1:c.1226C>A | XP_011513020.1:p.Pro409Gln | |
XM_011514719.1:c.1226C>A | XP_011513021.1:p.Pro409Gln | |
XR_926265.1:n.1393C>A | ||
XR_926266.1:n.1506C>A | ||
XR_926267.1:n.1393C>A | ||
XM_011514719.2:c.1226C>A | XP_011513021.1:p.Pro409Gln | |
XM_017010986.1:c.1226C>A | XP_016866475.1:p.Pro409Gln | |
XM_017010987.1:c.368C>A | XP_016866476.1:p.Pro123Gln | |
XM_024446481.1:c.1226C>A | XP_024302249.1:p.Pro409Gln | |
XR_001743495.2:n.1398C>A | ||
XR_001743496.2:n.1793C>A | ||
XR_001743498.2:n.3125C>A | ||
XR_001743499.2:n.719C>A | ||
XR_001743500.1:n.1226C>A | ||
XR_001743501.1:n.1226C>A | ||
XR_926265.2:n.1393C>A | ||
XR_926266.2:n.1506C>A | ||
XR_926267.2:n.1393C>A |