HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861393A>C , CM000668.2:g.31861393A>C | GRCh38 |
NC_000006.11:g.31829170A>C , CM000668.1:g.31829170A>C | GRCh37 |
NC_000006.10:g.31937149A>C | NCBI36 |
NG_008201.1:g.6540T>G | |
NG_023058.1:g.22654T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.410T>G MANE Select | ENSP00000364782.4:p.Leu137Arg | |
ENST00000677054.1:n.1087T>G | ||
ENST00000677512.1:n.518T>G | ||
ENST00000678869.1:n.518T>G | ||
ENST00000375631.4:c.410T>G | ENSP00000364782.4:p.Leu137Arg | |
ENST00000480384.1:n.439T>G | ||
ENST00000491768.5:c.410T>G | ENSP00000433127.1:p.Leu137Arg | |
ENST00000495807.1:n.978T>G | ||
NM_000434.3:c.410T>G | NP_000425.1:p.Leu137Arg | |
NM_000434.4:c.410T>G MANE Select | NP_000425.1:p.Leu137Arg |