HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122454944A>C , CM000672.2:g.122454944A>C | GRCh38 |
NC_000010.10:g.124214460A>C , CM000672.1:g.124214460A>C | GRCh37 |
NC_000010.9:g.124204450A>C | NCBI36 |
NG_011725.1:g.5282A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000528446.1:c.217A>C MANE Select | ENSP00000436682.1:p.Thr73Pro | |
NM_001099667.1:c.217A>C | NP_001093137.1:p.Thr73Pro | |
XR_946382.1:n.1827+3551T>G | ||
XR_946383.1:n.1827+3551T>G | ||
XR_946384.1:n.1576+3551T>G | ||
XR_946385.1:n.1905T>G | ||
NM_001099667.2:c.217A>C | NP_001093137.1:p.Thr73Pro | |
XR_946382.2:n.1855+3551T>G | ||
XR_946383.2:n.1855+3551T>G | ||
XR_946384.2:n.1580+3551T>G | ||
XR_946385.2:n.1933T>G | ||
NM_001099667.3:c.217A>C MANE Select | NP_001093137.1:p.Thr73Pro |