HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539916T>G , CM000663.2:g.100539916T>G | GRCh38 |
NC_000001.10:g.101005472T>G , CM000663.1:g.101005472T>G | GRCh37 |
NC_000001.9:g.100778060T>G | NCBI36 |
NG_053134.1:g.6745T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.950T>G MANE Select | ENSP00000314223.4:p.Val317Gly | |
ENST00000315033.4:c.950T>G | ENSP00000314223.4:p.Val317Gly | |
NM_022049.2:c.950T>G | NP_071332.2:p.Val317Gly | |
NM_022049.3:c.950T>G MANE Select | NP_071332.2:p.Val317Gly |