HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240879087A>G , CM000664.2:g.240879087A>G | GRCh38 |
NC_000002.11:g.241818504A>G , CM000664.1:g.241818504A>G | GRCh37 |
NC_000002.10:g.241467177A>G | NCBI36 |
NG_008005.1:g.15343A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.*266A>G MANE Select | ENSP00000302620.3:n.*266A>G | |
ENST00000307503.3:c.*266A>G | ENSP00000302620.3:n.*266A>G | |
ENST00000470255.1:n.1223A>G | ||
NM_000030.2:c.*266A>G | NP_000021.1:n.*266A>G | |
NM_000030.3:c.*266A>G MANE Select | NP_000021.1:n.*266A>G |