HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861387A>C , CM000668.2:g.31861387A>C | GRCh38 |
NC_000006.11:g.31829164A>C , CM000668.1:g.31829164A>C | GRCh37 |
NC_000006.10:g.31937143A>C | NCBI36 |
NG_008201.1:g.6546T>G | |
NG_023058.1:g.22660T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.416T>G MANE Select | ENSP00000364782.4:p.Leu139Arg | |
ENST00000677054.1:n.1093T>G | ||
ENST00000677512.1:n.524T>G | ||
ENST00000678869.1:n.524T>G | ||
ENST00000375631.4:c.416T>G | ENSP00000364782.4:p.Leu139Arg | |
ENST00000480384.1:n.445T>G | ||
ENST00000491768.5:c.416T>G | ENSP00000433127.1:p.Leu139Arg | |
ENST00000495807.1:n.984T>G | ||
NM_000434.3:c.416T>G | NP_000425.1:p.Leu139Arg | |
NM_000434.4:c.416T>G MANE Select | NP_000425.1:p.Leu139Arg |