HGVS | Genome Assembly |
---|---|
NC_000023.11:g.67723701C>A , CM000685.2:g.67723701C>A | GRCh38 |
NC_000023.10:g.66943543C>A , CM000685.1:g.66943543C>A | GRCh37 |
NC_000023.9:g.66860268C>A | NCBI36 |
NG_009014.2:g.184670C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396043.4:c.*971C>A | ENSP00000379358.4:n.*971C>A | |
ENST00000374690.9:c.2623C>A MANE Select | ENSP00000363822.3:p.His875Asn | |
ENST00000396043.3:c.1250C>A | ENSP00000379358.3:n.1250C>A | |
ENST00000396044.8:c.2189C>A | ENSP00000379359.3:p.Ala730Glu | |
ENST00000612452.5:c.2623C>A | ENSP00000484033.2:p.His875Asn | |
ENST00000374690.7:c.2623C>A | ENSP00000363822.3:p.His875Asn | |
ENST00000396043.2:c.1027C>A | ENSP00000379358.2:p.His343Asn | |
ENST00000396044.7:c.2189C>A | ENSP00000379359.3:p.Ala730Glu | |
ENST00000612452.4:c.2074C>A | ENSP00000484033.1:p.His692Asn | |
NM_000044.3:c.2623C>A | NP_000035.2:p.His875Asn | |
NM_001011645.2:c.1027C>A | NP_001011645.1:p.His343Asn | |
NM_000044.4:c.2623C>A | NP_000035.2:p.His875Asn | |
NM_001011645.3:c.1027C>A | NP_001011645.1:p.His343Asn | |
NM_000044.6:c.2623C>A MANE Select | NP_000035.2:p.His875Asn |