HGVS | Genome Assembly |
---|---|
NC_000002.12:g.5692896T>G , CM000664.2:g.5692896T>G | GRCh38 |
NC_000002.11:g.5833028T>G , CM000664.1:g.5833028T>G | GRCh37 |
NC_000002.10:g.5750479T>G | NCBI36 |
NG_050751.1:g.5230T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322002.5:c.175T>G MANE Select | ENSP00000322568.3:p.Trp59Gly | |
ENST00000322002.4:c.175T>G | ENSP00000322568.3:p.Trp59Gly | |
NM_003108.3:c.175T>G | NP_003099.1:p.Trp59Gly | |
NM_003108.4:c.175T>G MANE Select | NP_003099.1:p.Trp59Gly |