Linked Data
ClinVar Variation Id:
2404663
ClinVar RCV Id:
RCV004241452
dbSNP Id:
rs758426501
ExAC:
8:95840002 G / A
gnomAD v2:
8-95840002-G-A
gnomAD v3:
8-94827774-G-A
gnomAD v4:
8-94827774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.94827774G>A , CM000670.2:g.94827774G>A | GRCh38 |
| NC_000008.10:g.95840002G>A , CM000670.1:g.95840002G>A | GRCh37 |
| NC_000008.9:g.95909178G>A | NCBI36 |
| NG_047163.1:g.19464G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523731.6:c.499G>A MANE Select | ENSP00000430338.1:p.Gly167Arg | |
| ENST00000343161.8:c.499G>A | ENSP00000343274.4:p.Gly167Arg | |
| ENST00000519053.5:c.172G>A | ENSP00000429056.1:p.Gly58Arg | |
| ENST00000519457.5:c.358G>A | ENSP00000428260.1:p.Gly120Arg | |
| ENST00000521860.5:c.461G>A | ||
| ENST00000522171.5:c.376G>A | ENSP00000429340.1:p.Gly126Arg | |
| ENST00000523206.5:c.499G>A | ENSP00000429452.1:p.Gly167Arg | |
| ENST00000523321.5:n.624G>A | ||
| ENST00000523731.5:c.499G>A | ENSP00000430338.1:p.Gly167Arg | |
| ENST00000524333.5:c.499G>A | ENSP00000427840.1:p.Gly167Arg | |
| NM_017864.3:c.499G>A | NP_060334.2:p.Gly167Arg | |
| NR_073444.1:n.641G>A | ||
| NR_073445.1:n.641G>A | ||
| XM_006716602.2:c.499G>A | XP_006716665.1:p.Gly167Arg | |
| XM_006716603.2:c.172G>A | XP_006716666.1:p.Gly58Arg | |
| XM_011517155.1:c.376G>A | XP_011515457.1:p.Gly126Arg | |
| XM_011517156.1:c.499G>A | XP_011515458.1:p.Gly167Arg | |
| XM_011517157.1:c.172G>A | XP_011515459.1:p.Gly58Arg | |
| XM_017013616.1:c.499G>A | XP_016869105.1:p.Gly167Arg | |
| XM_017013617.1:c.499G>A | XP_016869106.1:p.Gly167Arg | |
| XM_017013618.1:c.172G>A | XP_016869107.1:p.Gly58Arg | |
| XM_017013619.1:c.-785G>A | XP_016869108.1:n.-785G>A | |
| NM_017864.4:c.499G>A MANE Select | NP_060334.2:p.Gly167Arg | |
| NR_073444.2:n.644G>A | ||
| NR_073445.2:n.644G>A |