HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100823256C>G , CM000669.2:g.100823256C>G | GRCh38 |
NC_000007.13:g.100420878C>G , CM000669.1:g.100420878C>G | GRCh37 |
NC_000007.12:g.100258814C>G | NCBI36 |
NG_052671.1:g.9266G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358173.8:c.411+388G>C MANE Select | ENSP00000350896.3:n.411+388G>C | |
ENST00000358173.7:c.411+388G>C | ENSP00000350896.3:n.411+388G>C | |
ENST00000360620.7:c.411+388G>C | ENSP00000353833.3:n.411+388G>C | |
ENST00000477446.5:n.411+388G>C | ||
ENST00000487222.5:n.1612+388G>C | ||
ENST00000489808.1:n.411+388G>C | ||
ENST00000616502.4:c.411+388G>C | ENSP00000482702.1:n.411+388G>C | |
NM_004444.4:c.411+388G>C | NP_004435.3:n.411+388G>C | |
XM_017011816.1:c.411+388G>C | XP_016867305.1:n.411+388G>C | |
NM_004444.5:c.411+388G>C MANE Select | NP_004435.3:n.411+388G>C |