HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74763445C>A , CM000679.2:g.74763445C>A | GRCh38 |
NC_000017.10:g.72759584C>A , CM000679.1:g.72759584C>A | GRCh37 |
NC_000017.9:g.70271179C>A | NCBI36 |
NG_013022.1:g.19822C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262613.10:c.682C>A MANE Select | ENSP00000262613.5:p.Leu228Met | |
ENST00000262613.9:c.682C>A | ENSP00000262613.5:p.Leu228Met | |
ENST00000413388.2:c.214C>A | ENSP00000464982.1:p.Leu72Met | |
ENST00000578958.1:n.416C>A | ||
ENST00000581356.1:c.18C>A | ||
ENST00000583369.5:c.442-4702C>A | ENSP00000464321.1:n.442-4702C>A | |
NM_004252.4:c.682C>A | NP_004243.1:p.Leu228Met | |
XR_002958087.1:n.901C>A | ||
NM_004252.5:c.682C>A MANE Select | NP_004243.1:p.Leu228Met |