HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270840C>G , CM000668.2:g.31270840C>G | GRCh38 |
NC_000006.11:g.31238617C>G , CM000668.1:g.31238617C>G | GRCh37 |
NC_000006.10:g.31346596C>G | NCBI36 |
NG_029422.2:g.6292G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.619+233G>C MANE Select | ENSP00000365402.5:n.619+233G>C | |
ENST00000376228.9:c.619+233G>C | ENSP00000365402.5:n.619+233G>C | |
ENST00000376237.8:c.*206+233G>C | ENSP00000365412.4:n.*206+233G>C | |
ENST00000383329.7:c.619+233G>C | ENSP00000372819.3:n.619+233G>C | |
ENST00000415537.1:c.617+233G>C | ||
ENST00000487245.5:n.978+233G>C | ||
ENST00000495835.1:n.808+233G>C | ||
NM_002117.5:c.619+233G>C | NP_002108.4:n.619+233G>C | |
NM_002117.6:c.619+233G>C MANE Select | NP_002108.4:n.619+233G>C |