HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110577441T>G , CM000672.2:g.110577441T>G | GRCh38 |
NC_000010.10:g.112337199T>G , CM000672.1:g.112337199T>G | GRCh37 |
NC_000010.9:g.112327189T>G | NCBI36 |
NG_012217.1:g.14751T>G , LRG_774:g.14751T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.352T>G | ||
ENST00000687823.1:n.133T>G | ||
ENST00000689932.1:n.2282T>G | ||
ENST00000691297.1:n.352T>G | ||
ENST00000691527.1:n.309T>G | ||
ENST00000692792.1:n.338T>G | ||
ENST00000361804.5:c.219T>G MANE Select | ENSP00000354720.5:p.Val73= | |
ENST00000361804.4:c.219T>G | ENSP00000354720.4:p.Val73= | |
ENST00000462899.1:n.365T>G | ||
NM_005445.3:c.219T>G , LRG_774t1:c.219T>G | NP_005436.1:p.Val73= | |
NM_005445.4:c.219T>G MANE Select | NP_005436.1:p.Val73= |