Linked Data
ClinVar Variation Id:
2634561
ClinVar RCV Id:
RCV003392836
dbSNP Id:
rs765032093
ExAC:
11:8111617 G / A
gnomAD v2:
11-8111617-G-A
gnomAD v3:
11-8090070-G-A
gnomAD v4:
11-8090070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090070G>A , CM000673.2:g.8090070G>A | GRCh38 |
| NC_000011.9:g.8111617G>A , CM000673.1:g.8111617G>A | GRCh37 |
| NC_000011.8:g.8068193G>A | NCBI36 |
| NG_029912.1:g.56438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.92G>A MANE Select | ENSP00000299506.3:p.Arg31Gln | |
| ENST00000299506.2:c.92G>A | ENSP00000299506.2:p.Arg31Gln | |
| ENST00000305253.8:c.257G>A | ENSP00000305426.4:p.Arg86Gln | |
| ENST00000534099.5:c.110G>A | ENSP00000434400.1:p.Arg37Gln | |
| NM_003320.4:c.257G>A | NP_003311.2:p.Arg86Gln | |
| NM_177972.2:c.92G>A | NP_813977.1:p.Arg31Gln | |
| XM_005253109.2:c.218G>A | XP_005253166.1:p.Arg73Gln | |
| XM_011520344.1:c.128G>A | XP_011518646.1:p.Arg43Gln | |
| XM_005253109.3:c.218G>A | XP_005253166.1:p.Arg73Gln | |
| XM_011520344.2:c.128G>A | XP_011518646.1:p.Arg43Gln | |
| NM_177972.3:c.92G>A MANE Select | NP_813977.1:p.Arg31Gln | |
| NM_003320.5:c.257G>A | NP_003311.2:p.Arg86Gln |