HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270454G>A , CM000668.2:g.31270454G>A | GRCh38 |
NC_000006.11:g.31238231G>A , CM000668.1:g.31238231G>A | GRCh37 |
NC_000006.10:g.31346210G>A | NCBI36 |
NG_029422.2:g.6678C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.651C>T MANE Select | ENSP00000365402.5:p.Pro217= | |
ENST00000376228.9:c.651C>T | ENSP00000365402.5:p.Pro217= | |
ENST00000376237.8:c.*238C>T | ENSP00000365412.4:n.*238C>T | |
ENST00000383329.7:c.651C>T | ENSP00000372819.3:p.Pro217= | |
ENST00000415537.1:c.649C>T | ||
ENST00000487245.5:n.1010C>T | ||
ENST00000495835.1:n.840C>T | ||
NM_002117.5:c.651C>T | NP_002108.4:p.Pro217= | |
NM_002117.6:c.651C>T MANE Select | NP_002108.4:p.Pro217= |