HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45645127A>C , CM000667.2:g.45645127A>C | GRCh38 |
NC_000005.9:g.45645229A>C , CM000667.1:g.45645229A>C | GRCh37 |
NC_000005.8:g.45680986A>C | NCBI36 |
NG_042183.1:g.55992T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.849+58T>G MANE Select | ENSP00000307342.4:n.849+58T>G | |
ENST00000637256.1:n.77+58T>G | ||
ENST00000673735.1:c.849+58T>G | ENSP00000501107.1:n.849+58T>G | |
ENST00000303230.5:c.849+58T>G | ENSP00000307342.4:n.849+58T>G | |
ENST00000634658.1:c.*19T>G | ENSP00000489134.1:n.*19T>G | |
NM_021072.3:c.849+58T>G | NP_066550.2:n.849+58T>G | |
NM_021072.4:c.849+58T>G MANE Select | NP_066550.2:n.849+58T>G |