Linked Data
ClinVar Variation Id:
558314
ClinVar RCV Id:
RCV000674562
dbSNP Id:
rs150244667
ExAC:
7:65547431 G / A
gnomAD v2:
7-65547431-G-A
gnomAD v3:
7-66082444-G-A
gnomAD v4:
7-66082444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66082444G>A , CM000669.2:g.66082444G>A | GRCh38 |
| NC_000007.13:g.65547431G>A , CM000669.1:g.65547431G>A | GRCh37 |
| NC_000007.12:g.65184866G>A | NCBI36 |
| NG_009288.1:g.11656G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.284G>A MANE Select | ENSP00000307188.9:p.Arg95His | |
| ENST00000362000.10:c.89G>A | ENSP00000354710.6:p.Arg30His | |
| ENST00000380839.9:c.284G>A | ENSP00000370219.4:p.Arg95His | |
| ENST00000395331.4:c.284G>A | ENSP00000378740.3:p.Arg95His | |
| ENST00000395332.8:c.284G>A | ENSP00000378741.3:p.Arg95His | |
| ENST00000671817.1:c.284G>A | ENSP00000500462.1:p.Arg95His | |
| ENST00000672498.1:c.284G>A | ENSP00000500227.1:p.Arg95His | |
| ENST00000672586.1:n.189G>A | ||
| ENST00000672676.1:n.454G>A | ||
| ENST00000673350.1:n.532G>A | ||
| ENST00000673518.1:c.284G>A | ENSP00000499889.1:p.Arg95His | |
| ENST00000673594.1:n.133G>A | ||
| ENST00000304874.13:c.284G>A | ENSP00000307188.9:p.Arg95His | |
| ENST00000362000.9:c.89G>A | ENSP00000354710.5:p.Arg30His | |
| ENST00000380839.8:c.284G>A | ENSP00000370219.4:p.Arg95His | |
| ENST00000395331.3:c.284G>A | ENSP00000378740.3:p.Arg95His | |
| ENST00000395332.7:c.284G>A | ENSP00000378741.3:p.Arg95His | |
| ENST00000487982.5:n.350G>A | ||
| ENST00000496336.1:n.525G>A | ||
| NM_000048.3:c.284G>A | NP_000039.2:p.Arg95His | |
| NM_001024943.1:c.284G>A | NP_001020114.1:p.Arg95His | |
| NM_001024944.1:c.284G>A | NP_001020115.1:p.Arg95His | |
| NM_001024946.1:c.284G>A | NP_001020117.1:p.Arg95His | |
| NM_000048.4:c.284G>A MANE Select | NP_000039.2:p.Arg95His | |
| NM_001024943.2:c.284G>A | NP_001020114.1:p.Arg95His | |
| NM_001024944.2:c.284G>A | NP_001020115.1:p.Arg95His | |
| NM_001024946.2:c.284G>A | NP_001020117.1:p.Arg95His |