HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160225333T>C , CM000668.2:g.160225333T>C | GRCh38 |
NC_000006.11:g.160646365T>C , CM000668.1:g.160646365T>C | GRCh37 |
NC_000006.10:g.160566355T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366953.8:c.1502-529A>G MANE Select | ENSP00000355920.3:n.1502-529A>G | |
ENST00000366953.7:c.1502-529A>G | ENSP00000355920.3:n.1502-529A>G | |
ENST00000486916.5:n.541-529A>G | ||
ENST00000491092.1:n.1399-529A>G | ||
NM_003058.3:c.1502-529A>G | NP_003049.2:n.1502-529A>G | |
NM_003058.4:c.1502-529A>G MANE Select | NP_003049.2:n.1502-529A>G |