HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58770584C>T , CM000679.2:g.58770584C>T | GRCh38 |
NC_000017.10:g.56847945C>T , CM000679.1:g.56847945C>T | GRCh37 |
NC_000017.9:g.54202944C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308249.4:c.464+14123C>T MANE Select | ENSP00000312411.2:n.464+14123C>T | |
ENST00000308249.3:c.464+14123C>T | ENSP00000312411.2:n.464+14123C>T | |
NM_014906.4:c.464+14123C>T | NP_055721.3:n.464+14123C>T | |
NR_048561.1:n.593+14123C>T | ||
NM_014906.5:c.464+14123C>T MANE Select | NP_055721.3:n.464+14123C>T |