HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31859724G>C , CM000668.2:g.31859724G>C | GRCh38 |
NC_000006.11:g.31827501G>C , CM000668.1:g.31827501G>C | GRCh37 |
NC_000006.10:g.31935480G>C | NCBI36 |
NG_008201.1:g.8209C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.1243C>G MANE Select | ENSP00000364782.4:p.Leu415Val | |
ENST00000677054.1:n.2582C>G | ||
ENST00000677512.1:n.1520C>G | ||
ENST00000678869.1:n.1831C>G | ||
ENST00000375631.4:c.1243C>G | ENSP00000364782.4:p.Leu415Val | |
ENST00000480384.1:n.1542C>G | ||
ENST00000491768.5:c.*353C>G | ENSP00000433127.1:n.*353C>G | |
ENST00000495807.1:n.2551C>G | ||
NM_000434.3:c.1243C>G | NP_000425.1:p.Leu415Val | |
NM_000434.4:c.1243C>G MANE Select | NP_000425.1:p.Leu415Val |