HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24290761G>T , CM000668.2:g.24290761G>T | GRCh38 |
NC_000006.11:g.24290989G>T , CM000668.1:g.24290989G>T | GRCh37 |
NC_000006.10:g.24398968G>T | NCBI36 |
NG_012829.1:g.72292C>A | |
NG_012829.2:g.97532C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.704+171C>A MANE Select | ENSP00000367715.3:n.704+171C>A | |
ENST00000378454.7:c.704+171C>A | ENSP00000367715.3:n.704+171C>A | |
NM_001195610.1:c.704+171C>A | NP_001182539.1:n.704+171C>A | |
NM_016356.4:c.704+171C>A | NP_057440.2:n.704+171C>A | |
NM_016356.5:c.704+171C>A MANE Select | NP_057440.2:n.704+171C>A | |
NM_001195610.2:c.704+171C>A | NP_001182539.1:n.704+171C>A |