HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814369G>C , CM000668.2:g.32814369G>C | GRCh38 |
NC_000006.11:g.32782146G>C , CM000668.1:g.32782146G>C | GRCh37 |
NC_000006.10:g.32890124G>C | NCBI36 |
NG_009793.3:g.29402C>G | |
NG_012008.1:g.7680C>G | |
NG_009793.4:g.29402C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.594C>G MANE Select | ENSP00000390020.2:p.Thr198= | |
ENST00000648009.1:c.594C>G | ENSP00000496848.1:p.Thr198= | |
ENST00000438763.6:c.594C>G | ENSP00000390020.2:p.Thr198= | |
ENST00000452392.2:c.2415C>G | ENSP00000391806.2:p.Thr805= | |
ENST00000475235.1:n.631C>G | ||
ENST00000488325.5:c.*365C>G | ENSP00000436618.1:n.*365C>G | |
NM_002120.3:c.594C>G | NP_002111.1:p.Thr198= | |
NM_002120.4:c.594C>G MANE Select | NP_002111.1:p.Thr198= |