HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278316C>A , CM000678.2:g.2278316C>A | GRCh38 |
NC_000016.9:g.2328317C>A , CM000678.1:g.2328317C>A | GRCh37 |
NC_000016.8:g.2268318C>A | NCBI36 |
NG_011790.1:g.67431G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4690G>T MANE Select | ENSP00000301732.5:p.Gly1564Cys | |
ENST00000301732.9:c.4690G>T | ENSP00000301732.5:p.Gly1564Cys | |
ENST00000382381.7:c.4516G>T | ENSP00000371818.3:p.Gly1506Cys | |
ENST00000566200.1:n.1211G>T | ||
NM_001089.2:c.4690G>T | NP_001080.2:p.Gly1564Cys | |
NM_001089.3:c.4690G>T MANE Select | NP_001080.2:p.Gly1564Cys |