HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110573873C>A , CM000672.2:g.110573873C>A | GRCh38 |
NC_000010.10:g.112333631C>A , CM000672.1:g.112333631C>A | GRCh37 |
NC_000010.9:g.112323621C>A | NCBI36 |
NG_012217.1:g.11183C>A , LRG_774:g.11183C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.263+128C>A | ||
ENST00000687823.1:n.45-1463C>A | ||
ENST00000689932.1:n.731C>A | ||
ENST00000691297.1:n.263+128C>A | ||
ENST00000691527.1:n.220+128C>A | ||
ENST00000692792.1:n.249+128C>A | ||
ENST00000361804.5:c.130+128C>A MANE Select | ENSP00000354720.5:n.130+128C>A | |
ENST00000361804.4:c.130+128C>A | ENSP00000354720.4:n.130+128C>A | |
ENST00000462899.1:n.276+128C>A | ||
NM_005445.3:c.130+128C>A , LRG_774t1:c.130+128C>A | NP_005436.1:n.130+128C>A | |
NM_005445.4:c.130+128C>A MANE Select | NP_005436.1:n.130+128C>A |