HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31859742T>G , CM000668.2:g.31859742T>G | GRCh38 |
NC_000006.11:g.31827519T>G , CM000668.1:g.31827519T>G | GRCh37 |
NC_000006.10:g.31935498T>G | NCBI36 |
NG_008201.1:g.8191A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.1225A>C MANE Select | ENSP00000364782.4:p.Ile409Leu | |
ENST00000677054.1:n.2564A>C | ||
ENST00000677512.1:n.1502A>C | ||
ENST00000678869.1:n.1813A>C | ||
ENST00000375631.4:c.1225A>C | ENSP00000364782.4:p.Ile409Leu | |
ENST00000480384.1:n.1524A>C | ||
ENST00000491768.5:c.*335A>C | ENSP00000433127.1:n.*335A>C | |
ENST00000495807.1:n.2533A>C | ||
NM_000434.3:c.1225A>C | NP_000425.1:p.Ile409Leu | |
NM_000434.4:c.1225A>C MANE Select | NP_000425.1:p.Ile409Leu |