HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31862012C>T , CM000668.2:g.31862012C>T | GRCh38 |
NC_000006.11:g.31829789C>T , CM000668.1:g.31829789C>T | GRCh37 |
NC_000006.10:g.31937768C>T | NCBI36 |
NG_008201.1:g.5921G>A | |
NG_023058.1:g.22035G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.339G>A MANE Select | ENSP00000364782.4:p.Arg113= | |
ENST00000677054.1:n.468G>A | ||
ENST00000677512.1:n.447G>A | ||
ENST00000678869.1:n.447G>A | ||
ENST00000375631.4:c.339G>A | ENSP00000364782.4:p.Arg113= | |
ENST00000480384.1:n.368G>A | ||
ENST00000491768.5:c.339G>A | ENSP00000433127.1:p.Arg113= | |
ENST00000495807.1:n.359G>A | ||
NM_000434.3:c.339G>A | NP_000425.1:p.Arg113= | |
NM_000434.4:c.339G>A MANE Select | NP_000425.1:p.Arg113= |