Linked Data
ClinVar Variation Id:
243040
dbSNP Id:
rs763818876
ExAC:
1:987155 G / A
gnomAD v2:
1-987155-G-A
gnomAD v4:
1-1051775-G-A
PubMed:
PMID:20301347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1051775G>A , CM000663.2:g.1051775G>A | GRCh38 |
| NC_000001.10:g.987155G>A , CM000663.1:g.987155G>A | GRCh37 |
| NC_000001.9:g.977018G>A | NCBI36 |
| NG_016346.1:g.36653G>A , LRG_198:g.36653G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379370.7:c.5611G>A MANE Select | ENSP00000368678.2:p.Gly1871Arg | |
| ENST00000651234.1:c.5308G>A | ENSP00000499046.1:p.Gly1770Arg | |
| ENST00000652369.1:c.5296G>A | ENSP00000498543.1:p.Gly1766Arg | |
| ENST00000379370.6:c.5611G>A | ENSP00000368678.2:p.Gly1871Arg | |
| ENST00000419249.1:c.518G>A | ||
| ENST00000620552.4:c.5209G>A | ENSP00000484607.1:p.Gly1737Arg | |
| NM_001305275.1:c.5623G>A | NP_001292204.1:p.Gly1875Arg | |
| NM_198576.3:c.5611G>A | NP_940978.2:p.Gly1871Arg | |
| XM_005244749.2:c.5623G>A | XP_005244806.1:p.Gly1875Arg | |
| XM_006710635.2:c.5623G>A | XP_006710698.1:p.Gly1875Arg | |
| XM_011541429.1:c.5623G>A | XP_011539731.1:p.Gly1875Arg | |
| XM_011541430.1:c.4750G>A | XP_011539732.1:p.Gly1584Arg | |
| XM_011541431.1:c.3889G>A | XP_011539733.1:p.Gly1297Arg | |
| XR_946650.1:n.5690G>A | ||
| NM_001364727.1:c.5308G>A | NP_001351656.1:p.Gly1770Arg | |
| XM_005244749.3:c.5623G>A | XP_005244806.1:p.Gly1875Arg | |
| XM_011541429.2:c.5623G>A | XP_011539731.1:p.Gly1875Arg | |
| XR_946650.2:n.5694G>A | ||
| NM_001305275.2:c.5623G>A | NP_001292204.1:p.Gly1875Arg | |
| NM_198576.4:c.5611G>A MANE Select | NP_940978.2:p.Gly1871Arg | |
| NM_001364727.2:c.5308G>A | NP_001351656.1:p.Gly1770Arg |