HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977892C>G , CM000667.2:g.149977892C>G | GRCh38 |
NC_000005.9:g.149357455C>G , CM000667.1:g.149357455C>G | GRCh37 |
NC_000005.8:g.149337648C>G | NCBI36 |
NG_007147.2:g.19010C>G , LRG_684:g.19010C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.472C>G | ||
ENST00000286298.5:c.240C>G MANE Select | ENSP00000286298.4:p.Cys80Trp | |
ENST00000286298.4:c.240C>G | ENSP00000286298.4:p.Cys80Trp | |
NM_000112.3:c.240C>G , LRG_684t1:c.240C>G | NP_000103.2:p.Cys80Trp | |
XM_017009191.2:c.240C>G | XP_016864680.1:p.Cys80Trp | |
NM_000112.4:c.240C>G MANE Select | NP_000103.2:p.Cys80Trp |