HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55044003T>A , CM000663.2:g.55044003T>A | GRCh38 |
NC_000001.10:g.55509676T>A , CM000663.1:g.55509676T>A | GRCh37 |
NC_000001.9:g.55282264T>A | NCBI36 |
NG_009061.1:g.9457T>A , LRG_275:g.9457T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.368T>A | ENSP00000501161.2:p.Leu123Gln | |
ENST00000710286.1:c.725T>A | ENSP00000518176.1:p.Leu242Gln | |
ENST00000673662.1:n.38T>A | ||
ENST00000673726.1:c.368T>A | ENSP00000501004.1:p.Leu123Gln | |
ENST00000673903.1:c.-8T>A | ENSP00000501257.1:n.-8T>A | |
ENST00000302118.5:c.368T>A MANE Select | ENSP00000303208.5:p.Leu123Gln | |
NM_174936.3:c.368T>A , LRG_275t1:c.368T>A | NP_777596.2:p.Leu123Gln | |
NR_110451.1:n.182+3600T>A | ||
NM_174936.4:c.368T>A MANE Select | NP_777596.2:p.Leu123Gln | |
NR_110451.2:n.182+3600T>A |