HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110575352C>A , CM000672.2:g.110575352C>A | GRCh38 |
NC_000010.10:g.112335110C>A , CM000672.1:g.112335110C>A | GRCh37 |
NC_000010.9:g.112325100C>A | NCBI36 |
NG_012217.1:g.12662C>A , LRG_774:g.12662C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.280C>A | ||
ENST00000687823.1:n.61C>A | ||
ENST00000689932.1:n.2210C>A | ||
ENST00000691297.1:n.280C>A | ||
ENST00000691527.1:n.237C>A | ||
ENST00000692792.1:n.266C>A | ||
ENST00000361804.5:c.147C>A MANE Select | ENSP00000354720.5:p.Leu49= | |
ENST00000361804.4:c.147C>A | ENSP00000354720.4:p.Leu49= | |
ENST00000462899.1:n.293C>A | ||
NM_005445.3:c.147C>A , LRG_774t1:c.147C>A | NP_005436.1:p.Leu49= | |
NM_005445.4:c.147C>A MANE Select | NP_005436.1:p.Leu49= |