HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177072C>G , CM000678.2:g.177072C>G | GRCh38 |
NC_000016.9:g.227071C>G , CM000678.1:g.227071C>G | GRCh37 |
NC_000016.8:g.167071C>G | NCBI36 |
NG_000006.1:g.37935C>G | |
NG_059186.1:g.5422C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.239C>G MANE Select | ENSP00000322421.5:p.Ala80Gly | |
ENST00000397797.1:c.143C>G | ENSP00000380899.1:p.Ala48Gly | |
ENST00000472694.1:n.375C>G | ||
ENST00000487791.1:n.208C>G | ||
NM_000558.4:c.239C>G | NP_000549.1:p.Ala80Gly | |
NM_000558.5:c.239C>G MANE Select | NP_000549.1:p.Ala80Gly |