Linked Data
ClinVar Variation Id:
374869
ClinVar RCV Id:
RCV000415553
dbSNP Id:
rs144944758
ExAC:
1:17609392 C / A
gnomAD v2:
1-17609392-C-A
gnomAD v3:
1-17282897-C-A
gnomAD v4:
1-17282897-C-A
PubMed:
PMID:27866708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17282897C>A , CM000663.2:g.17282897C>A | GRCh38 |
| NC_000001.10:g.17609392C>A , CM000663.1:g.17609392C>A | GRCh37 |
| NC_000001.9:g.17481979C>A | NCBI36 |
| NG_052788.1:g.38819C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375460.3:c.1813C>A MANE Select | ENSP00000364609.3:p.Pro605Thr | |
| NM_016233.2:c.1813C>A MANE Select | NP_057317.2:p.Pro605Thr | |
| XM_006710684.2:c.1699C>A | XP_006710747.1:p.Pro567Thr | |
| XM_011541571.1:c.1699C>A | XP_011539873.1:p.Pro567Thr | |
| XM_011541571.2:c.1699C>A | XP_011539873.1:p.Pro567Thr | |
| XM_017001463.1:c.1276C>A | XP_016856952.1:p.Pro426Thr |