HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130566C>G , CM000663.2:g.160130566C>G | GRCh38 |
NC_000001.10:g.160100356C>G , CM000663.1:g.160100356C>G | GRCh37 |
NC_000001.9:g.158366980C>G | NCBI36 |
NG_008014.1:g.19809C>G , LRG_6:g.19809C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.1796C>G MANE Select | ENSP00000354490.3:p.Ala599Gly | |
ENST00000361216.7:c.1796C>G | ENSP00000354490.3:p.Ala599Gly | |
ENST00000392233.7:c.1796C>G | ENSP00000376066.3:p.Ala599Gly | |
ENST00000447527.1:c.928C>G | ||
ENST00000472488.5:n.1899C>G | ||
NM_000702.3:c.1796C>G | NP_000693.1:p.Ala599Gly | |
NM_000702.4:c.1796C>G MANE Select | NP_000693.1:p.Ala599Gly |