HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160249102C>T , CM000668.2:g.160249102C>T | GRCh38 |
NC_000006.11:g.160670134C>T , CM000668.1:g.160670134C>T | GRCh37 |
NC_000006.10:g.160590124C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366953.8:c.842+114G>A MANE Select | ENSP00000355920.3:n.842+114G>A | |
ENST00000366952.1:c.779+114G>A | ENSP00000355919.1:n.779+114G>A | |
ENST00000366953.7:c.842+114G>A | ENSP00000355920.3:n.842+114G>A | |
ENST00000491092.1:n.739+114G>A | ||
NM_003058.3:c.842+114G>A | NP_003049.2:n.842+114G>A | |
NM_003058.4:c.842+114G>A MANE Select | NP_003049.2:n.842+114G>A |