HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40866920C>G , CM000679.2:g.40866920C>G | GRCh38 |
NC_000017.10:g.39023172C>G , CM000679.1:g.39023172C>G | GRCh37 |
NC_000017.9:g.36276698C>G | NCBI36 |
NG_008077.1:g.5291G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251643.5:c.267G>C MANE Select | ENSP00000251643.4:p.Leu89= | |
ENST00000647902.1:c.212-53G>C | ENSP00000497770.1:n.212-53G>C | |
ENST00000251643.4:c.267G>C | ENSP00000251643.4:p.Leu89= | |
NM_000223.3:c.267G>C | NP_000214.1:p.Leu89= | |
XR_934754.1:n.1500+16060C>G | ||
XR_934754.2:n.2008+16060C>G | ||
NM_000223.4:c.267G>C MANE Select | NP_000214.1:p.Leu89= |