HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110589911A>G , CM000672.2:g.110589911A>G | GRCh38 |
NC_000010.10:g.112349669A>G , CM000672.1:g.112349669A>G | GRCh37 |
NC_000010.9:g.112339659A>G | NCBI36 |
NG_012217.1:g.27221A>G , LRG_774:g.27221A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684797.1:n.1329A>G | ||
ENST00000684988.1:n.2074A>G | ||
ENST00000687823.1:n.1343A>G | ||
ENST00000689932.1:n.3492A>G | ||
ENST00000691297.1:n.1562A>G | ||
ENST00000691527.1:n.2232A>G | ||
ENST00000692792.1:n.1548A>G | ||
ENST00000361804.5:c.1429A>G MANE Select | ENSP00000354720.5:p.Asn477Asp | |
ENST00000361804.4:c.1429A>G | ENSP00000354720.4:p.Asn477Asp | |
NM_005445.3:c.1429A>G , LRG_774t1:c.1429A>G | NP_005436.1:p.Asn477Asp | |
NM_005445.4:c.1429A>G MANE Select | NP_005436.1:p.Asn477Asp |