HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624142T= , CM000679.2:g.41624142T= | GRCh38 |
NC_000017.10:g.39780394T= , CM000679.1:g.39780394T= | GRCh37 |
NC_000017.9:g.37033920T= | NCBI36 |
NG_008625.1:g.5489A= | |
NG_009090.2:g.167571A= , LRG_401:g.167571A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.368A= MANE Select | ENSP00000308452.8:p.Gln123= | |
ENST00000311208.12:c.368A= | ENSP00000308452.8:p.Gln123= | |
ENST00000463128.5:c.-248A= | ENSP00000468672.1:n.-248A= | |
ENST00000491673.1:n.434A= | ||
ENST00000493253.5:n.155A= | ||
ENST00000540235.5:c.119A= | ENSP00000441751.2:p.Gln40= | |
ENST00000577817.3:c.323A= | ENSP00000467418.1:p.Gln108= | |
NM_000422.2:c.368A= | NP_000413.1:p.Gln123= | |
NM_000422.3:c.368A= MANE Select | NP_000413.1:p.Gln123= |