HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40866826G>A , CM000679.2:g.40866826G>A | GRCh38 |
NC_000017.10:g.39023078G>A , CM000679.1:g.39023078G>A | GRCh37 |
NC_000017.9:g.36276604G>A | NCBI36 |
NG_008077.1:g.5385C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251643.5:c.361C>T MANE Select | ENSP00000251643.4:p.Leu121Phe | |
ENST00000647902.1:c.253C>T | ENSP00000497770.1:p.Leu85Phe | |
ENST00000251643.4:c.361C>T | ENSP00000251643.4:p.Leu121Phe | |
NM_000223.3:c.361C>T | NP_000214.1:p.Leu121Phe | |
XR_934754.1:n.1500+15966G>A | ||
XR_934754.2:n.2008+15966G>A | ||
NM_000223.4:c.361C>T MANE Select | NP_000214.1:p.Leu121Phe |