HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160553490G>A , CM000668.2:g.160553490G>A | GRCh38 |
NC_000006.11:g.160974522G>A , CM000668.1:g.160974522G>A | GRCh37 |
NC_000006.10:g.160894512G>A | NCBI36 |
NG_016147.1:g.117886C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316300.10:c.4973+2535C>T MANE Select | ENSP00000321334.6:n.4973+2535C>T | |
ENST00000316300.9:c.4973+2535C>T | ENSP00000321334.5:n.4973+2535C>T | |
NM_005577.2:c.4973+2535C>T | NP_005568.2:n.4973+2535C>T | |
NM_005577.3:c.4973+2535C>T | NP_005568.2:n.4973+2535C>T | |
NM_005577.4:c.4973+2535C>T MANE Select | NP_005568.2:n.4973+2535C>T |