HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995782G>C , CM000663.2:g.196995782G>C | GRCh38 |
NC_000001.10:g.196964912G>C , CM000663.1:g.196964912G>C | GRCh37 |
NC_000001.9:g.195231535G>C | NCBI36 |
NG_016365.1:g.23246G>C , LRG_227:g.23246G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.418G>C | ENSP00000514393.1:p.Glu140Gln | |
ENST00000699467.1:n.742G>C | ||
ENST00000699468.1:c.-24-332G>C | ENSP00000514394.1:n.-24-332G>C | |
ENST00000256785.5:c.673G>C MANE Select | ENSP00000256785.4:p.Glu225Gln | |
ENST00000256785.4:c.673G>C | ENSP00000256785.4:p.Glu225Gln | |
NM_030787.3:c.673G>C , LRG_227t1:c.673G>C | NP_110414.1:p.Glu225Gln | |
XM_011510020.1:c.682G>C | XP_011508322.1:p.Glu228Gln | |
XM_011510020.2:c.682G>C | XP_011508322.1:p.Glu228Gln | |
NM_030787.4:c.673G>C MANE Select | NP_110414.1:p.Glu225Gln |