HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582359T>A , CM000673.2:g.47582359T>A | GRCh38 |
NC_000011.9:g.47603911T>A , CM000673.1:g.47603911T>A | GRCh37 |
NC_000011.8:g.47560487T>A | NCBI36 |
NG_011946.1:g.8350T>A | |
NG_011946.2:g.8350T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.518T>A MANE Select | ENSP00000263774.4:p.Met173Lys | |
ENST00000531351.2:n.1713T>A | ||
ENST00000677462.1:n.2992T>A | ||
ENST00000678975.1:n.2775T>A | ||
ENST00000263774.8:c.518T>A | ENSP00000263774.4:p.Met173Lys | |
ENST00000524568.1:n.621T>A | ||
ENST00000525212.1:n.173T>A | ||
ENST00000525378.5:n.456T>A | ||
ENST00000527178.1:n.118T>A | ||
ENST00000533507.5:n.1412T>A | ||
NM_004551.2:c.518T>A | NP_004542.1:p.Met173Lys | |
NM_004551.3:c.518T>A MANE Select | NP_004542.1:p.Met173Lys |