Linked Data
ClinVar Variation Id:
1026651
dbSNP Id:
rs777018719
ExAC:
17:71192824 G / A
gnomAD v2:
17-71192824-G-A
gnomAD v3:
17-73196685-G-A
gnomAD v4:
17-73196685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196685G>A , CM000679.2:g.73196685G>A | GRCh38 |
| NC_000017.10:g.71192824G>A , CM000679.1:g.71192824G>A | GRCh37 |
| NC_000017.9:g.68704419G>A | NCBI36 |
| NG_008971.1:g.8652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.494G>A MANE Select | ENSP00000299886.4:p.Arg165Gln | |
| ENST00000299886.8:c.494G>A | ENSP00000299886.4:p.Arg165Gln | |
| ENST00000438720.7:c.492G>A | ||
| ENST00000582587.2:c.491G>A | ||
| ENST00000618996.4:c.494G>A | ENSP00000479450.1:p.Arg165Gln | |
| NM_018714.2:c.494G>A | NP_061184.1:p.Arg165Gln | |
| NM_018714.3:c.494G>A MANE Select | NP_061184.1:p.Arg165Gln |