HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240872992C>G , CM000664.2:g.240872992C>G | GRCh38 |
NC_000002.11:g.241812409C>G , CM000664.1:g.241812409C>G | GRCh37 |
NC_000002.10:g.241461082C>G | NCBI36 |
NG_008005.1:g.9248C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.538C>G MANE Select | ENSP00000302620.3:p.Leu180Val | |
ENST00000307503.3:c.538C>G | ENSP00000302620.3:p.Leu180Val | |
ENST00000472436.1:n.558C>G | ||
ENST00000476698.1:n.275C>G | ||
NM_000030.2:c.538C>G | NP_000021.1:p.Leu180Val | |
NM_000030.3:c.538C>G MANE Select | NP_000021.1:p.Leu180Val |