Linked Data
ClinVar Variation Id:
387869
dbSNP Id:
rs146243145
ExAC:
1:980868 G / A
gnomAD v2:
1-980868-G-A
gnomAD v3:
1-1045488-G-A
gnomAD v4:
1-1045488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1045488G>A , CM000663.2:g.1045488G>A | GRCh38 |
| NC_000001.10:g.980868G>A , CM000663.1:g.980868G>A | GRCh37 |
| NC_000001.9:g.970731G>A | NCBI36 |
| NG_016346.1:g.30366G>A , LRG_198:g.30366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.2501G>A MANE Select | ENSP00000368678.2:p.Arg834Gln | |
| ENST00000651234.1:c.2186G>A | ENSP00000499046.1:p.Arg729Gln | |
| ENST00000652369.1:c.2186G>A | ENSP00000498543.1:p.Arg729Gln | |
| ENST00000379370.6:c.2501G>A | ENSP00000368678.2:p.Arg834Gln | |
| ENST00000479707.1:n.90G>A | ||
| ENST00000620552.4:c.2087G>A | ENSP00000484607.1:p.Arg696Gln | |
| NM_001305275.1:c.2501G>A | NP_001292204.1:p.Arg834Gln | |
| NM_198576.3:c.2501G>A | NP_940978.2:p.Arg834Gln | |
| XM_005244749.2:c.2501G>A | XP_005244806.1:p.Arg834Gln | |
| XM_006710635.2:c.2501G>A | XP_006710698.1:p.Arg834Gln | |
| XM_011541429.1:c.2501G>A | XP_011539731.1:p.Arg834Gln | |
| XM_011541430.1:c.1628G>A | XP_011539732.1:p.Arg543Gln | |
| XM_011541431.1:c.767G>A | XP_011539733.1:p.Arg256Gln | |
| XR_946650.1:n.2568G>A | ||
| NM_001364727.1:c.2186G>A | NP_001351656.1:p.Arg729Gln | |
| XM_005244749.3:c.2501G>A | XP_005244806.1:p.Arg834Gln | |
| XM_011541429.2:c.2501G>A | XP_011539731.1:p.Arg834Gln | |
| XR_946650.2:n.2572G>A | ||
| NM_001305275.2:c.2501G>A | NP_001292204.1:p.Arg834Gln | |
| NM_198576.4:c.2501G>A MANE Select | NP_940978.2:p.Arg834Gln | |
| NM_001364727.2:c.2186G>A | NP_001351656.1:p.Arg729Gln |