HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860467T>C , CM000668.2:g.31860467T>C | GRCh38 |
NC_000006.11:g.31828244T>C , CM000668.1:g.31828244T>C | GRCh37 |
NC_000006.10:g.31936223T>C | NCBI36 |
NG_008201.1:g.7466A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.770A>G MANE Select | ENSP00000364782.4:p.Glu257Gly | |
ENST00000677054.1:n.2013A>G | ||
ENST00000677512.1:n.878A>G | ||
ENST00000678869.1:n.1444A>G | ||
ENST00000375631.4:c.770A>G | ENSP00000364782.4:p.Glu257Gly | |
ENST00000480384.1:n.799A>G | ||
ENST00000491768.5:c.770A>G | ENSP00000433127.1:p.Glu257Gly | |
ENST00000495807.1:n.1904A>G | ||
NM_000434.3:c.770A>G | NP_000425.1:p.Glu257Gly | |
NM_000434.4:c.770A>G MANE Select | NP_000425.1:p.Glu257Gly |