HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110581939A>C , CM000672.2:g.110581939A>C | GRCh38 |
NC_000010.10:g.112341697A>C , CM000672.1:g.112341697A>C | GRCh37 |
NC_000010.9:g.112331687A>C | NCBI36 |
NG_012217.1:g.19249A>C , LRG_774:g.19249A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.697A>C | ||
ENST00000687823.1:n.478A>C | ||
ENST00000689932.1:n.2627A>C | ||
ENST00000691297.1:n.697A>C | ||
ENST00000691527.1:n.1367A>C | ||
ENST00000692792.1:n.683A>C | ||
ENST00000361804.5:c.564A>C MANE Select | ENSP00000354720.5:p.Lys188Asn | |
ENST00000361804.4:c.564A>C | ENSP00000354720.4:p.Lys188Asn | |
ENST00000462899.1:n.710A>C | ||
NM_005445.3:c.564A>C , LRG_774t1:c.564A>C | NP_005436.1:p.Lys188Asn | |
NM_005445.4:c.564A>C MANE Select | NP_005436.1:p.Lys188Asn |