HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270820T>A , CM000668.2:g.31270820T>A | GRCh38 |
NC_000006.11:g.31238597T>A , CM000668.1:g.31238597T>A | GRCh37 |
NC_000006.10:g.31346576T>A | NCBI36 |
NG_029422.2:g.6312A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.619+253A>T MANE Select | ENSP00000365402.5:n.619+253A>T | |
ENST00000376228.9:c.619+253A>T | ENSP00000365402.5:n.619+253A>T | |
ENST00000376237.8:c.*206+253A>T | ENSP00000365412.4:n.*206+253A>T | |
ENST00000383329.7:c.619+253A>T | ENSP00000372819.3:n.619+253A>T | |
ENST00000415537.1:c.617+253A>T | ||
ENST00000487245.5:n.978+253A>T | ||
ENST00000495835.1:n.808+253A>T | ||
NM_002117.5:c.619+253A>T | NP_002108.4:n.619+253A>T | |
NM_002117.6:c.619+253A>T MANE Select | NP_002108.4:n.619+253A>T |