HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110577439G>T , CM000672.2:g.110577439G>T | GRCh38 |
NC_000010.10:g.112337197G>T , CM000672.1:g.112337197G>T | GRCh37 |
NC_000010.9:g.112327187G>T | NCBI36 |
NG_012217.1:g.14749G>T , LRG_774:g.14749G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.350G>T | ||
ENST00000687823.1:n.131G>T | ||
ENST00000689932.1:n.2280G>T | ||
ENST00000691297.1:n.350G>T | ||
ENST00000691527.1:n.307G>T | ||
ENST00000692792.1:n.336G>T | ||
ENST00000361804.5:c.217G>T MANE Select | ENSP00000354720.5:p.Val73Phe | |
ENST00000361804.4:c.217G>T | ENSP00000354720.4:p.Val73Phe | |
ENST00000462899.1:n.363G>T | ||
NM_005445.3:c.217G>T , LRG_774t1:c.217G>T | NP_005436.1:p.Val73Phe | |
NM_005445.4:c.217G>T MANE Select | NP_005436.1:p.Val73Phe |