HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766069G>C , CM000674.2:g.57766069G>C | GRCh38 |
NC_000012.11:g.58159852G>C , CM000674.1:g.58159852G>C | GRCh37 |
NC_000012.10:g.56446119G>C | NCBI36 |
NG_007076.1:g.6125C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.236C>G | ||
ENST00000713544.1:c.324C>G | ENSP00000518840.1:p.Cys108Trp | |
ENST00000713545.1:c.324C>G | ENSP00000518841.1:p.Cys108Trp | |
ENST00000228606.9:c.324C>G MANE Select | ENSP00000228606.4:p.Cys108Trp | |
ENST00000228606.8:c.324C>G | ENSP00000228606.4:p.Cys108Trp | |
ENST00000546496.1:n.152C>G | ||
ENST00000546609.1:c.236C>G | ||
ENST00000547344.5:n.378C>G | ||
ENST00000552186.1:n.443C>G | ||
NM_000785.3:c.324C>G | NP_000776.1:p.Cys108Trp | |
NM_000785.4:c.324C>G MANE Select | NP_000776.1:p.Cys108Trp |