Linked Data
ClinVar Variation Id:
1287707
ClinVar RCV Id:
RCV001710834
dbSNP Id:
rs16888728
ExAC:
8:117783975 C / T
gnomAD v2:
8-117783975-C-T
gnomAD v3:
8-116771736-C-T
gnomAD v4:
8-116771736-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116771736C>T , CM000670.2:g.116771736C>T | GRCh38 |
| NC_000008.10:g.117783975C>T , CM000670.1:g.117783975C>T | GRCh37 |
| NC_000008.9:g.117853156C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309822.7:c.644C>T MANE Select | ENSP00000308332.2:p.Pro215Leu | |
| ENST00000309822.6:c.644C>T | ENSP00000308332.2:p.Pro215Leu | |
| ENST00000517814.1:c.363+1370C>T | ENSP00000429962.1:n.363+1370C>T | |
| ENST00000517820.1:c.188+4945C>T | ENSP00000427767.1:n.188+4945C>T | |
| ENST00000520733.5:c.45+1370C>T | ENSP00000429384.1:n.45+1370C>T | |
| ENST00000521071.1:c.188+4945C>T | ENSP00000430029.1:n.188+4945C>T | |
| ENST00000521703.5:c.188+4945C>T | ENSP00000428455.1:n.188+4945C>T | |
| ENST00000521974.1:n.550C>T | ||
| ENST00000524128.1:c.45+1370C>T | ENSP00000430309.1:n.45+1370C>T | |
| NM_032334.2:c.644C>T | NP_115710.2:p.Pro215Leu | |
| XM_005251080.2:c.363+1370C>T | XP_005251137.2:n.363+1370C>T | |
| XR_928356.1:n.411+1370C>T | ||
| XR_928357.1:n.411+1370C>T | ||
| NM_032334.3:c.644C>T MANE Select | NP_115710.2:p.Pro215Leu |