HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764543T>A , CM000674.2:g.57764543T>A | GRCh38 |
NC_000012.11:g.58158326T>A , CM000674.1:g.58158326T>A | GRCh37 |
NC_000012.10:g.56444593T>A | NCBI36 |
NG_007076.1:g.7651A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1052A>T | ENSP00000518840.1:p.Asn351Ile | |
ENST00000713545.1:c.1029A>T | ENSP00000518841.1:p.Gln343His | |
ENST00000228606.9:c.971A>T MANE Select | ENSP00000228606.4:p.Asn324Ile | |
ENST00000228606.8:c.971A>T | ENSP00000228606.4:p.Asn324Ile | |
ENST00000546567.5:c.266A>T | ENSP00000449472.1:p.Asn89Ile | |
ENST00000547344.5:n.1110A>T | ||
NM_000785.3:c.971A>T | NP_000776.1:p.Asn324Ile | |
NM_000785.4:c.971A>T MANE Select | NP_000776.1:p.Asn324Ile |