HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110581989A>G , CM000672.2:g.110581989A>G | GRCh38 |
NC_000010.10:g.112341747A>G , CM000672.1:g.112341747A>G | GRCh37 |
NC_000010.9:g.112331737A>G | NCBI36 |
NG_012217.1:g.19299A>G , LRG_774:g.19299A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.747A>G | ||
ENST00000687823.1:n.528A>G | ||
ENST00000689932.1:n.2677A>G | ||
ENST00000691297.1:n.747A>G | ||
ENST00000691527.1:n.1417A>G | ||
ENST00000692792.1:n.733A>G | ||
ENST00000361804.5:c.614A>G MANE Select | ENSP00000354720.5:p.Glu205Gly | |
ENST00000361804.4:c.614A>G | ENSP00000354720.4:p.Glu205Gly | |
ENST00000462899.1:n.760A>G | ||
NM_005445.3:c.614A>G , LRG_774t1:c.614A>G | NP_005436.1:p.Glu205Gly | |
NM_005445.4:c.614A>G MANE Select | NP_005436.1:p.Glu205Gly |