HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716777A>T , CM000667.2:g.14716777A>T | GRCh38 |
NC_000005.9:g.14716886A>T , CM000667.1:g.14716886A>T | GRCh37 |
NC_000005.8:g.14769886A>T | NCBI36 |
NG_008273.1:g.160002T>A | |
NG_008273.2:g.160009T>A | |
NG_051625.1:g.60984A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1070T>A MANE Select | ENSP00000284268.6:p.Ile357Asn | |
ENST00000284268.6:c.1070T>A | ENSP00000284268.6:p.Ile357Asn | |
ENST00000502585.1:n.312T>A | ||
NM_054027.4:c.1070T>A | NP_473368.1:p.Ile357Asn | |
NM_054027.5:c.1070T>A | NP_473368.1:p.Ile357Asn | |
XM_017009644.2:c.986T>A | XP_016865133.1:p.Ile329Asn | |
NM_054027.6:c.1070T>A MANE Select | NP_473368.1:p.Ile357Asn |