HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271130A>T , CM000668.2:g.31271130A>T | GRCh38 |
NC_000006.11:g.31238907A>T , CM000668.1:g.31238907A>T | GRCh37 |
NC_000006.10:g.31346886A>T | NCBI36 |
NG_029422.2:g.6002T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.562T>A MANE Select | ENSP00000365402.5:p.Cys188Ser | |
ENST00000376228.9:c.562T>A | ENSP00000365402.5:p.Cys188Ser | |
ENST00000376237.8:c.*149T>A | ENSP00000365412.4:n.*149T>A | |
ENST00000383329.7:c.562T>A | ENSP00000372819.3:p.Cys188Ser | |
ENST00000415537.1:c.560T>A | ||
ENST00000484378.1:n.831T>A | ||
ENST00000487245.5:n.921T>A | ||
ENST00000495835.1:n.751T>A | ||
NM_002117.5:c.562T>A | NP_002108.4:p.Cys188Ser | |
NM_002117.6:c.562T>A MANE Select | NP_002108.4:p.Cys188Ser |