HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110577482A>C , CM000672.2:g.110577482A>C | GRCh38 |
NC_000010.10:g.112337240A>C , CM000672.1:g.112337240A>C | GRCh37 |
NC_000010.9:g.112327230A>C | NCBI36 |
NG_012217.1:g.14792A>C , LRG_774:g.14792A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684988.1:n.393A>C | ||
ENST00000687823.1:n.174A>C | ||
ENST00000689932.1:n.2323A>C | ||
ENST00000691297.1:n.393A>C | ||
ENST00000691527.1:n.350A>C | ||
ENST00000692792.1:n.379A>C | ||
ENST00000361804.5:c.260A>C MANE Select | ENSP00000354720.5:p.Asn87Thr | |
ENST00000361804.4:c.260A>C | ENSP00000354720.4:p.Asn87Thr | |
ENST00000462899.1:n.406A>C | ||
NM_005445.3:c.260A>C , LRG_774t1:c.260A>C | NP_005436.1:p.Asn87Thr | |
NM_005445.4:c.260A>C MANE Select | NP_005436.1:p.Asn87Thr |