Linked Data
ClinVar Variation Id:
424158
ClinVar RCV Id:
RCV000483215
dbSNP Id:
rs764626828
ExAC:
1:57341863 T / C
gnomAD v2:
1-57341863-T-C
gnomAD v3:
1-56876190-T-C
gnomAD v4:
1-56876190-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56876190T>C , CM000663.2:g.56876190T>C | GRCh38 |
| NC_000001.10:g.57341863T>C , CM000663.1:g.57341863T>C | GRCh37 |
| NC_000001.9:g.57114451T>C | NCBI36 |
| NG_012049.1:g.26421T>C , LRG_139:g.26421T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.579T>C | ||
| ENST00000695677.1:c.445T>C | ENSP00000512097.1:p.Ser149Pro | |
| ENST00000695678.1:c.445T>C | ENSP00000512098.1:p.Ser149Pro | |
| ENST00000695679.1:c.445T>C | ENSP00000512099.1:p.Ser149Pro | |
| ENST00000695680.1:n.551T>C | ||
| ENST00000695681.1:c.445T>C | ENSP00000512100.1:p.Ser149Pro | |
| ENST00000695682.1:n.539T>C | ||
| ENST00000695683.1:n.476T>C | ||
| ENST00000695684.1:n.343T>C | ||
| ENST00000695685.1:n.396T>C | ||
| ENST00000695723.1:c.445T>C | ENSP00000512121.1:p.Ser149Pro | |
| ENST00000361249.4:c.445T>C MANE Select | ENSP00000354458.3:p.Ser149Pro | |
| ENST00000361249.3:c.445T>C | ENSP00000354458.3:p.Ser149Pro | |
| NM_000562.2:c.445T>C , LRG_139t1:c.445T>C | NP_000553.1:p.Ser149Pro | |
| XM_011542079.1:c.445T>C | XP_011540381.1:p.Ser149Pro | |
| XM_011542079.2:c.445T>C | XP_011540381.1:p.Ser149Pro | |
| XM_017002234.1:c.445T>C | XP_016857723.1:p.Ser149Pro | |
| NM_000562.3:c.445T>C MANE Select | NP_000553.1:p.Ser149Pro |