Linked Data
ClinVar Variation Id:
1169492
dbSNP Id:
rs143523574
ExAC:
1:57333304 C / T
gnomAD v2:
1-57333304-C-T
gnomAD v3:
1-56867631-C-T
gnomAD v4:
1-56867631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56867631C>T , CM000663.2:g.56867631C>T | GRCh38 |
| NC_000001.10:g.57333304C>T , CM000663.1:g.57333304C>T | GRCh37 |
| NC_000001.9:g.57105892C>T | NCBI36 |
| NG_012049.1:g.17862C>T , LRG_139:g.17862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.234C>T | ||
| ENST00000695677.1:c.100C>T | ENSP00000512097.1:p.Pro34Ser | |
| ENST00000695678.1:c.100C>T | ENSP00000512098.1:p.Pro34Ser | |
| ENST00000695679.1:c.100C>T | ENSP00000512099.1:p.Pro34Ser | |
| ENST00000695680.1:n.206C>T | ||
| ENST00000695681.1:c.100C>T | ENSP00000512100.1:p.Pro34Ser | |
| ENST00000695682.1:n.194C>T | ||
| ENST00000695683.1:n.184C>T | ||
| ENST00000695684.1:n.51C>T | ||
| ENST00000695685.1:n.51C>T | ||
| ENST00000695723.1:c.100C>T | ENSP00000512121.1:p.Pro34Ser | |
| ENST00000361249.4:c.100C>T MANE Select | ENSP00000354458.3:p.Pro34Ser | |
| ENST00000361249.3:c.100C>T | ENSP00000354458.3:p.Pro34Ser | |
| NM_000562.2:c.100C>T , LRG_139t1:c.100C>T | NP_000553.1:p.Pro34Ser | |
| XM_011542079.1:c.100C>T | XP_011540381.1:p.Pro34Ser | |
| XM_011542079.2:c.100C>T | XP_011540381.1:p.Pro34Ser | |
| XM_017002234.1:c.100C>T | XP_016857723.1:p.Pro34Ser | |
| NM_000562.3:c.100C>T MANE Select | NP_000553.1:p.Pro34Ser |