Linked Data
ClinVar Variation Id:
1053671
ClinVar RCV Id:
RCV001362045
dbSNP Id:
rs370983524
ExAC:
1:979383 G / A
gnomAD v2:
1-979383-G-A
gnomAD v3:
1-1044003-G-A
gnomAD v4:
1-1044003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1044003G>A , CM000663.2:g.1044003G>A | GRCh38 |
| NC_000001.10:g.979383G>A , CM000663.1:g.979383G>A | GRCh37 |
| NC_000001.9:g.969246G>A | NCBI36 |
| NG_016346.1:g.28881G>A , LRG_198:g.28881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1979G>A MANE Select | ENSP00000368678.2:p.Arg660Gln | |
| ENST00000651234.1:c.1664G>A | ENSP00000499046.1:p.Arg555Gln | |
| ENST00000652369.1:c.1664G>A | ENSP00000498543.1:p.Arg555Gln | |
| ENST00000379370.6:c.1979G>A | ENSP00000368678.2:p.Arg660Gln | |
| ENST00000620552.4:c.1565G>A | ENSP00000484607.1:p.Arg522Gln | |
| NM_001305275.1:c.1979G>A | NP_001292204.1:p.Arg660Gln | |
| NM_198576.3:c.1979G>A | NP_940978.2:p.Arg660Gln | |
| XM_005244749.2:c.1979G>A | XP_005244806.1:p.Arg660Gln | |
| XM_006710635.2:c.1979G>A | XP_006710698.1:p.Arg660Gln | |
| XM_011541429.1:c.1979G>A | XP_011539731.1:p.Arg660Gln | |
| XM_011541430.1:c.1106G>A | XP_011539732.1:p.Arg369Gln | |
| XM_011541431.1:c.245G>A | XP_011539733.1:p.Arg82Gln | |
| XR_946650.1:n.2046G>A | ||
| NM_001364727.1:c.1664G>A | NP_001351656.1:p.Arg555Gln | |
| XM_005244749.3:c.1979G>A | XP_005244806.1:p.Arg660Gln | |
| XM_011541429.2:c.1979G>A | XP_011539731.1:p.Arg660Gln | |
| XR_946650.2:n.2050G>A | ||
| NM_001305275.2:c.1979G>A | NP_001292204.1:p.Arg660Gln | |
| NM_198576.4:c.1979G>A MANE Select | NP_940978.2:p.Arg660Gln | |
| NM_001364727.2:c.1664G>A | NP_001351656.1:p.Arg555Gln |