Linked Data
ClinVar Variation Id:
496918
dbSNP Id:
rs536758576
ExAC:
11:67379444 G / A
gnomAD v2:
11-67379444-G-A
gnomAD v3:
11-67611973-G-A
gnomAD v4:
11-67611973-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611973G>A , CM000673.2:g.67611973G>A | GRCh38 |
| NC_000011.9:g.67379444G>A , CM000673.1:g.67379444G>A | GRCh37 |
| NC_000011.8:g.67136020G>A | NCBI36 |
| NG_013353.1:g.10122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1157G>A MANE Select | ENSP00000322450.6:p.Arg386His | |
| ENST00000647561.1:c.1157G>A | ENSP00000497587.1:p.Arg386His | |
| ENST00000322776.10:c.1157G>A | ENSP00000322450.6:p.Arg386His | |
| ENST00000415352.6:c.1136G>A | ENSP00000395368.2:p.Arg379His | |
| ENST00000526770.5:n.1440G>A | ||
| ENST00000527355.5:c.370-147G>A | ENSP00000432637.1:n.370-147G>A | |
| ENST00000527923.1:n.499G>A | ||
| ENST00000529927.5:c.1130G>A | ENSP00000436766.1:p.Arg377His | |
| ENST00000531250.1:n.421G>A | ||
| ENST00000532303.5:c.854G>A | ENSP00000432015.1:p.Arg285His | |
| ENST00000533919.5:c.561G>A | ENSP00000435199.1:n.561G>A | |
| ENST00000534352.1:n.255G>A | ||
| NM_001166102.1:c.1130G>A | NP_001159574.1:p.Arg377His | |
| NM_007103.3:c.1157G>A | NP_009034.2:p.Arg386His | |
| NM_001166102.2:c.1130G>A | NP_001159574.1:p.Arg377His | |
| NM_007103.4:c.1157G>A MANE Select | NP_009034.2:p.Arg386His |