HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271161C>T , CM000668.2:g.31271161C>T | GRCh38 |
NC_000006.11:g.31238938C>T , CM000668.1:g.31238938C>T | GRCh37 |
NC_000006.10:g.31346917C>T | NCBI36 |
NG_029422.2:g.5971G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.531G>A MANE Select | ENSP00000365402.5:p.Ala177= | |
ENST00000376228.9:c.531G>A | ENSP00000365402.5:p.Ala177= | |
ENST00000376237.8:c.*118G>A | ENSP00000365412.4:n.*118G>A | |
ENST00000383329.7:c.531G>A | ENSP00000372819.3:p.Ala177= | |
ENST00000415537.1:c.529G>A | ||
ENST00000484378.1:n.800G>A | ||
ENST00000487245.5:n.890G>A | ||
ENST00000495835.1:n.720G>A | ||
NM_002117.5:c.531G>A | NP_002108.4:p.Ala177= | |
NM_002117.6:c.531G>A MANE Select | NP_002108.4:p.Ala177= |