Linked Data
ClinVar Variation Id:
509916
dbSNP Id:
rs775832239
ExAC:
11:68702030 C / T
gnomAD v2:
11-68702030-C-T
gnomAD v3:
11-68934562-C-T
gnomAD v4:
11-68934562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934562C>T , CM000673.2:g.68934562C>T | GRCh38 |
| NC_000011.9:g.68702030C>T , CM000673.1:g.68702030C>T | GRCh37 |
| NC_000011.8:g.68458606C>T | NCBI36 |
| NG_007976.1:g.35712C>T , LRG_250:g.35712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1632+4C>T MANE Select | ENSP00000255078.4:n.1632+4C>T | |
| ENST00000674672.1:n.95+4C>T | ||
| ENST00000674955.1:c.*349+4C>T | ENSP00000502463.1:n.*349+4C>T | |
| ENST00000675118.1:c.1120+4C>T | ||
| ENST00000675615.1:c.1632+4C>T | ENSP00000502413.1:n.1632+4C>T | |
| ENST00000675648.1:n.1007+4C>T | ||
| ENST00000675964.1:n.95+4C>T | ||
| ENST00000676173.1:n.2377+4C>T | ||
| ENST00000676182.1:c.95+4C>T | ||
| ENST00000676228.1:c.*955+4C>T | ENSP00000502375.1:n.*955+4C>T | |
| ENST00000255078.7:c.1632+4C>T | ENSP00000255078.3:n.1632+4C>T | |
| ENST00000539064.5:n.1391+4C>T | ||
| ENST00000541229.5:n.327+4C>T | ||
| ENST00000543739.5:n.749+4C>T | ||
| ENST00000545475.1:n.228+4C>T | ||
| NM_002180.2:c.1632+4C>T , LRG_250t1:c.1632+4C>T | NP_002171.2:n.1632+4C>T | |
| XM_005273974.2:c.621+4C>T | XP_005274031.1:n.621+4C>T | |
| XM_005273975.2:c.504+4C>T | XP_005274032.1:n.504+4C>T | |
| XM_011544994.1:c.399+4C>T | XP_011543296.1:n.399+4C>T | |
| XR_949903.1:n.1734+4C>T | ||
| XM_005273975.3:c.504+4C>T | XP_005274032.1:n.504+4C>T | |
| XM_017017669.2:c.621+4C>T | XP_016873158.1:n.621+4C>T | |
| XM_017017670.2:c.621+4C>T | XP_016873159.1:n.621+4C>T | |
| XM_017017671.2:c.1632+4C>T | XP_016873160.1:n.1632+4C>T | |
| XR_949903.3:n.1730+4C>T | ||
| NM_002180.3:c.1632+4C>T MANE Select | NP_002171.2:n.1632+4C>T |