HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160539327T>C , CM000668.2:g.160539327T>C | GRCh38 |
NC_000006.11:g.160960359T>C , CM000668.1:g.160960359T>C | GRCh37 |
NC_000006.10:g.160880349T>C | NCBI36 |
NG_016147.1:g.132049A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316300.10:c.5735+716A>G MANE Select | ENSP00000321334.6:n.5735+716A>G | |
ENST00000316300.9:c.5735+716A>G | ENSP00000321334.5:n.5735+716A>G | |
NM_005577.2:c.5735+716A>G | NP_005568.2:n.5735+716A>G | |
NM_005577.3:c.5735+716A>G | NP_005568.2:n.5735+716A>G | |
NM_005577.4:c.5735+716A>G MANE Select | NP_005568.2:n.5735+716A>G |