HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228620T>G , CM000673.2:g.112228620T>G | GRCh38 |
NC_000011.9:g.112099343T>G , CM000673.1:g.112099343T>G | GRCh37 |
NC_000011.8:g.111604553T>G | NCBI36 |
NG_008743.1:g.7256T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000280362.8:c.110T>G MANE Select | ENSP00000280362.3:p.Leu37Trp | |
ENST00000280362.7:c.110T>G | ENSP00000280362.3:p.Leu37Trp | |
ENST00000524931.1:c.-95T>G | ENSP00000434688.1:n.-95T>G | |
ENST00000525645.1:n.185T>G | ||
ENST00000525803.1:c.110T>G | ENSP00000431750.1:p.Leu37Trp | |
ENST00000528679.5:c.110T>G | ENSP00000435895.1:p.Leu37Trp | |
ENST00000531673.5:c.110T>G | ENSP00000433469.1:p.Leu37Trp | |
NM_000317.2:c.110T>G | NP_000308.1:p.Leu37Trp | |
NM_000317.3:c.110T>G MANE Select | NP_000308.1:p.Leu37Trp |