HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110602159T>A , CM000672.2:g.110602159T>A | GRCh38 |
NC_000010.10:g.112361917T>A , CM000672.1:g.112361917T>A | GRCh37 |
NC_000010.9:g.112351907T>A | NCBI36 |
NG_012217.1:g.39469T>A , LRG_774:g.39469T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5319T>A | ||
ENST00000685743.1:n.2794T>A | ||
ENST00000686057.1:n.1437T>A | ||
ENST00000689321.1:n.2049T>A | ||
ENST00000689986.1:n.875T>A | ||
ENST00000361804.5:c.3086T>A MANE Select | ENSP00000354720.5:p.Ile1029Asn | |
ENST00000361804.4:c.3086T>A | ENSP00000354720.4:p.Ile1029Asn | |
NM_005445.3:c.3086T>A , LRG_774t1:c.3086T>A | NP_005436.1:p.Ile1029Asn | |
NM_005445.4:c.3086T>A MANE Select | NP_005436.1:p.Ile1029Asn |