Linked Data
ClinVar Variation Id:
371246
ClinVar RCV Id:
RCV000548200
dbSNP Id:
rs148059333
ExAC:
11:68552282 C / T
gnomAD v2:
11-68552282-C-T
gnomAD v3:
11-68784814-C-T
gnomAD v4:
11-68784814-C-T
PubMed:
PMID:27066452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68784814C>T , CM000673.2:g.68784814C>T | GRCh38 |
| NC_000011.9:g.68552282C>T , CM000673.1:g.68552282C>T | GRCh37 |
| NC_000011.8:g.68308858C>T | NCBI36 |
| NG_011801.1:g.62118G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.1163+1G>A MANE Select | ENSP00000265641.4:n.1163+1G>A | |
| ENST00000265641.9:c.1163+1G>A | ENSP00000265641.4:n.1163+1G>A | |
| ENST00000376618.6:c.1163+1G>A | ENSP00000365803.2:n.1163+1G>A | |
| ENST00000539743.5:c.1163+1G>A | ENSP00000446108.1:n.1163+1G>A | |
| ENST00000540367.5:c.1163+1G>A | ENSP00000439084.1:n.1163+1G>A | |
| NM_001031847.2:c.1163+1G>A | NP_001027017.1:n.1163+1G>A | |
| NM_001876.3:c.1163+1G>A | NP_001867.2:n.1163+1G>A | |
| XM_005273762.1:c.1259+1G>A | XP_005273819.1:n.1259+1G>A | |
| XM_005273763.1:c.1259+1G>A | XP_005273820.1:n.1259+1G>A | |
| XM_005273762.3:c.1259+1G>A | XP_005273819.1:n.1259+1G>A | |
| XM_017017220.1:c.1163+1G>A | XP_016872709.1:n.1163+1G>A | |
| NM_001876.4:c.1163+1G>A MANE Select | NP_001867.2:n.1163+1G>A | |
| NM_001031847.3:c.1163+1G>A | NP_001027017.1:n.1163+1G>A |