Linked Data
ClinVar Variation Id:
1347498
ClinVar RCV Id:
RCV002050610
dbSNP Id:
rs761109115
ExAC:
1:57347178 C / T
gnomAD v2:
1-57347178-C-T
gnomAD v3:
1-56881505-C-T
gnomAD v4:
1-56881505-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56881505C>T , CM000663.2:g.56881505C>T | GRCh38 |
| NC_000001.10:g.57347178C>T , CM000663.1:g.57347178C>T | GRCh37 |
| NC_000001.9:g.57119766C>T | NCBI36 |
| NG_012049.1:g.31736C>T , LRG_139:g.31736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.599-1976C>T | ||
| ENST00000695677.1:c.525C>T | ENSP00000512097.1:p.Gly175= | |
| ENST00000695678.1:c.525C>T | ENSP00000512098.1:p.Gly175= | |
| ENST00000695679.1:c.465-1976C>T | ENSP00000512099.1:n.465-1976C>T | |
| ENST00000695680.1:n.631C>T | ||
| ENST00000695681.1:c.525C>T | ENSP00000512100.1:p.Gly175= | |
| ENST00000695682.1:n.619C>T | ||
| ENST00000695683.1:n.556C>T | ||
| ENST00000695685.1:n.476C>T | ||
| ENST00000695686.1:n.131C>T | ||
| ENST00000695723.1:c.525C>T | ENSP00000512121.1:p.Gly175= | |
| ENST00000361249.4:c.525C>T MANE Select | ENSP00000354458.3:p.Gly175= | |
| ENST00000361249.3:c.525C>T | ENSP00000354458.3:p.Gly175= | |
| NM_000562.2:c.525C>T , LRG_139t1:c.525C>T | NP_000553.1:p.Gly175= | |
| XM_011542079.1:c.525C>T | XP_011540381.1:p.Gly175= | |
| XM_011542079.2:c.525C>T | XP_011540381.1:p.Gly175= | |
| XM_017002234.1:c.525C>T | XP_016857723.1:p.Gly175= | |
| NM_000562.3:c.525C>T MANE Select | NP_000553.1:p.Gly175= |