HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154746A>T , CM000668.2:g.3154746A>T | GRCh38 |
NC_000006.11:g.3154980A>T , CM000668.1:g.3154980A>T | GRCh37 |
NC_000006.10:g.3099979A>T | NCBI36 |
NG_042223.1:g.7804T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.455T>A MANE Select | ENSP00000369703.2:p.Ile152Asn | |
ENST00000679400.1:n.511T>A | ||
ENST00000679907.1:n.843T>A | ||
ENST00000680036.1:n.1237T>A | ||
ENST00000680967.1:n.1545T>A | ||
ENST00000333628.3:c.455T>A | ENSP00000369703.2:p.Ile152Asn | |
ENST00000489942.1:n.650T>A | ||
NM_001069.2:c.455T>A | NP_001060.1:p.Ile152Asn | |
NM_001310315.1:c.200T>A | NP_001297244.1:p.Ile67Asn | |
NM_001069.3:c.455T>A MANE Select | NP_001060.1:p.Ile152Asn | |
NM_001310315.2:c.200T>A | NP_001297244.1:p.Ile67Asn |