HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17645754T>G , CM000673.2:g.17645754T>G | GRCh38 |
NC_000011.9:g.17667301T>G , CM000673.1:g.17667301T>G | GRCh37 |
NC_000011.8:g.17623877T>G | NCBI36 |
NG_033191.1:g.103382T>G | |
NG_033191.2:g.103382T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000399391.7:c.8588T>G | ENSP00000382323.2:p.Val2863Gly | |
ENST00000399397.6:c.8552T>G MANE Select | ENSP00000382329.2:p.Val2851Gly | |
ENST00000399391.6:c.8588T>G | ENSP00000382323.2:p.Val2863Gly | |
ENST00000399397.5:c.8552T>G | ENSP00000382329.2:p.Val2851Gly | |
NM_001277269.1:c.8588T>G | NP_001264198.1:p.Val2863Gly | |
NM_001292063.1:c.8552T>G | NP_001278992.1:p.Val2851Gly | |
NM_001277269.2:c.8588T>G | NP_001264198.1:p.Val2863Gly | |
NM_001292063.2:c.8552T>G MANE Select | NP_001278992.1:p.Val2851Gly |