Linked Data
ClinVar Variation Id:
255154
dbSNP Id:
rs114136713
ExAC:
15:43503710 A / G
gnomAD v2:
15-43503710-A-G
gnomAD v3:
15-43211512-A-G
gnomAD v4:
15-43211512-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43211512A>G , CM000677.2:g.43211512A>G | GRCh38 |
| NC_000015.9:g.43503710A>G , CM000677.1:g.43503710A>G | GRCh37 |
| NC_000015.8:g.41291002A>G | NCBI36 |
| NG_011505.1:g.14614T>C | |
| NG_011505.2:g.19345T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.453T>C MANE Select | ENSP00000396616.2:p.Asn151= | |
| ENST00000648595.1:c.543T>C | ENSP00000497777.1:p.Asn181= | |
| ENST00000300215.7:c.543T>C | ENSP00000300215.3:p.Asn181= | |
| ENST00000441366.6:c.453T>C | ENSP00000396616.2:p.Asn151= | |
| ENST00000540029.5:c.219T>C | ENSP00000444699.1:p.Asn73= | |
| ENST00000568508.5:c.312T>C | ENSP00000457140.1:p.Asn104= | |
| ENST00000569204.1:c.117T>C | ENSP00000455489.1:p.Asn39= | |
| ENST00000622454.4:c.453T>C | ENSP00000481226.1:p.Asn151= | |
| NM_000119.2:c.543T>C | NP_000110.2:p.Asn181= | |
| NM_001114134.1:c.453T>C | NP_001107606.1:p.Asn151= | |
| XM_005254225.1:c.453T>C | XP_005254282.1:p.Asn151= | |
| XM_011521349.1:c.543T>C | XP_011519651.1:p.Asn181= | |
| XM_011521350.1:c.543T>C | XP_011519652.1:p.Asn181= | |
| XM_011521351.1:c.543T>C | XP_011519653.1:p.Asn181= | |
| XM_011521352.1:c.507T>C | XP_011519654.1:p.Asn169= | |
| XM_011521353.1:c.543T>C | XP_011519655.1:p.Asn181= | |
| XM_011521354.1:c.-13T>C | XP_011519656.1:n.-13T>C | |
| NM_000119.3:c.543T>C | NP_000110.2:p.Asn181= | |
| XM_011521349.2:c.543T>C | XP_011519651.1:p.Asn181= | |
| XM_011521350.2:c.543T>C | XP_011519652.1:p.Asn181= | |
| XM_011521351.2:c.543T>C | XP_011519653.1:p.Asn181= | |
| XM_011521352.2:c.507T>C | XP_011519654.1:p.Asn169= | |
| XM_011521353.2:c.543T>C | XP_011519655.1:p.Asn181= | |
| XM_011521354.2:c.-13T>C | XP_011519656.1:n.-13T>C | |
| NM_001114134.2:c.453T>C MANE Select | NP_001107606.1:p.Asn151= |