HGVS | Genome Assembly |
---|---|
NC_000017.11:g.62701571G>C , CM000679.2:g.62701571G>C | GRCh38 |
NC_000017.10:g.60778932G>C , CM000679.1:g.60778932G>C | GRCh37 |
NC_000017.9:g.58132664G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311269.10:c.*132C>G MANE Select | ENSP00000311496.5:n.*132C>G | |
ENST00000311269.9:c.*132C>G | ENSP00000311496.5:n.*132C>G | |
ENST00000456609.6:c.*132C>G | ENSP00000416177.2:n.*132C>G | |
ENST00000579620.1:n.179-193C>G | ||
ENST00000580520.5:c.2120C>G | ENSP00000464220.1:n.2120C>G | |
ENST00000582358.1:n.309C>G | ||
ENST00000583600.5:c.*132C>G | ENSP00000463080.1:n.*132C>G | |
NM_001100875.2:c.*132C>G | NP_001094345.1:n.*132C>G | |
NM_001288779.1:c.*132C>G | NP_001275708.1:n.*132C>G | |
NM_152598.3:c.*132C>G | NP_689811.2:n.*132C>G | |
XM_005257095.2:c.*38C>G | XP_005257152.2:n.*38C>G | |
XM_005257096.2:c.*38C>G | XP_005257153.2:n.*38C>G | |
XM_005257097.3:c.*38C>G | XP_005257154.2:n.*38C>G | |
XM_005257098.2:c.*38C>G | XP_005257155.2:n.*38C>G | |
XM_005257100.2:c.*38C>G | XP_005257157.2:n.*38C>G | |
XM_005257102.2:c.*38C>G | XP_005257159.2:n.*38C>G | |
XM_005257106.3:c.*38C>G | XP_005257163.2:n.*38C>G | |
XM_011524435.1:c.*38C>G | XP_011522737.1:n.*38C>G | |
XM_011524436.1:c.*38C>G | XP_011522738.1:n.*38C>G | |
XM_011524437.1:c.*132C>G | XP_011522739.1:n.*132C>G | |
XM_005257095.3:c.*38C>G | XP_005257152.2:n.*38C>G | |
XM_005257098.3:c.*38C>G | XP_005257155.2:n.*38C>G | |
XM_005257100.3:c.*38C>G | XP_005257157.2:n.*38C>G | |
XM_005257102.3:c.*38C>G | XP_005257159.2:n.*38C>G | |
XM_005257106.4:c.*38C>G | XP_005257163.2:n.*38C>G | |
XM_011524435.2:c.*38C>G | XP_011522737.1:n.*38C>G | |
XM_011524437.2:c.*132C>G | XP_011522739.1:n.*132C>G | |
NM_152598.4:c.*132C>G MANE Select | NP_689811.2:n.*132C>G | |
NM_001100875.3:c.*132C>G | NP_001094345.1:n.*132C>G | |
NM_001288779.2:c.*132C>G | NP_001275708.1:n.*132C>G |