Linked Data
ClinVar Variation Id:
224137
ClinVar RCV Id:
RCV000209911
dbSNP Id:
rs534517447
ExAC:
11:120827644 G / A
gnomAD v2:
11-120827644-G-A
gnomAD v3:
11-120956935-G-A
gnomAD v4:
11-120956935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120956935G>A , CM000673.2:g.120956935G>A | GRCh38 |
| NC_000011.9:g.120827644G>A , CM000673.1:g.120827644G>A | GRCh37 |
| NC_000011.8:g.120332854G>A | NCBI36 |
| NG_042194.1:g.450190G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527524.8:c.1856G>A MANE Select | ENSP00000435648.2:p.Arg619His | |
| ENST00000638419.1:c.1856G>A | ENSP00000492086.1:p.Arg619His | |
| ENST00000438375.2:c.1856G>A | ENSP00000404063.2:p.Arg619His | |
| ENST00000527524.6:c.1856G>A | ENSP00000435648.1:p.Arg619His | |
| ENST00000533291.5:n.2254G>A | ||
| NM_001282470.2:c.1856G>A | NP_001269399.1:p.Arg619His | |
| NM_001282473.2:c.1856G>A | NP_001269402.1:p.Arg619His | |
| NM_014619.4:c.1856G>A | NP_055434.2:p.Arg619His | |
| NR_133004.1:n.82+1023C>T | ||
| XM_011542783.1:c.2072G>A | XP_011541085.1:p.Arg691His | |
| XM_011542784.1:c.1694G>A | XP_011541086.1:p.Arg565His | |
| XM_011542785.1:c.2072G>A | XP_011541087.1:p.Arg691His | |
| XM_011542786.1:c.1130G>A | XP_011541088.1:p.Arg377His | |
| XM_011542787.1:c.1094G>A | XP_011541089.1:p.Arg365His | |
| XM_011542788.1:c.1094G>A | XP_011541090.1:p.Arg365His | |
| XR_948104.1:n.104+1023C>T | ||
| XM_011542784.2:c.1694G>A | XP_011541086.1:p.Arg565His | |
| XM_011542786.2:c.1130G>A | XP_011541088.1:p.Arg377His | |
| XM_011542787.2:c.1094G>A | XP_011541089.1:p.Arg365His | |
| XM_017017621.2:c.1700+3971G>A | XP_016873110.1:n.1700+3971G>A | |
| XM_017017622.2:c.1652G>A | XP_016873111.1:p.Arg551His | |
| NM_014619.5:c.1856G>A MANE Select | NP_055434.2:p.Arg619His | |
| NM_001282470.3:c.1856G>A | NP_001269399.1:p.Arg619His | |
| NM_001282473.3:c.1856G>A | NP_001269402.1:p.Arg619His |