HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160420406C>G , CM000663.2:g.160420406C>G | GRCh38 |
NC_000001.10:g.160390196C>G , CM000663.1:g.160390196C>G | GRCh37 |
NC_000001.9:g.158656820C>G | NCBI36 |
NG_023420.1:g.24833C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696602.1:c.945-5C>G | ENSP00000512747.1:n.945-5C>G | |
ENST00000368061.3:c.801-5C>G MANE Select | ENSP00000357040.2:n.801-5C>G | |
ENST00000368061.2:c.801-5C>G | ENSP00000357040.2:n.801-5C>G | |
ENST00000483408.1:n.118-646C>G | ||
NM_020335.2:c.801-5C>G | NP_065068.1:n.801-5C>G | |
XM_005245357.1:c.801-5C>G | XP_005245414.1:n.801-5C>G | |
XM_011509804.1:c.801-5C>G | XP_011508106.1:n.801-5C>G | |
NM_020335.3:c.801-5C>G MANE Select | NP_065068.1:n.801-5C>G |