HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8085897G>T , CM000679.2:g.8085897G>T | GRCh38 |
NC_000017.10:g.7989215G>T , CM000679.1:g.7989215G>T | GRCh37 |
NC_000017.9:g.7929940G>T | NCBI36 |
NG_007099.1:g.6807C>A | |
NG_007099.2:g.6820C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.352+119C>A MANE Select | ENSP00000497784.1:n.352+119C>A | |
ENST00000319144.4:c.352+119C>A | ENSP00000315167.4:n.352+119C>A | |
NM_001139.2:c.352+119C>A | NP_001130.1:n.352+119C>A | |
NM_001139.3:c.352+119C>A MANE Select | NP_001130.1:n.352+119C>A |