HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763765G>C , CM000674.2:g.57763765G>C | GRCh38 |
NC_000012.11:g.58157548G>C , CM000674.1:g.58157548G>C | GRCh37 |
NC_000012.10:g.56443815G>C | NCBI36 |
NG_007076.1:g.8429C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1340C>G | ENSP00000518840.1:p.Ala447Gly | |
ENST00000713545.1:c.*264C>G | ENSP00000518841.1:n.*264C>G | |
ENST00000228606.9:c.1259C>G MANE Select | ENSP00000228606.4:p.Ala420Gly | |
ENST00000228606.8:c.1259C>G | ENSP00000228606.4:p.Ala420Gly | |
ENST00000547344.5:n.1398C>G | ||
NM_000785.3:c.1259C>G | NP_000776.1:p.Ala420Gly | |
NM_000785.4:c.1259C>G MANE Select | NP_000776.1:p.Ala420Gly |