Linked Data
ClinVar Variation Id:
1530525
ClinVar RCV Id:
RCV002099425
dbSNP Id:
rs970318013
gnomAD v2:
11-65430286-G-A
gnomAD v3:
11-65662815-G-A
gnomAD v4:
11-65662815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65662815G>A , CM000673.2:g.65662815G>A | GRCh38 |
| NC_000011.9:g.65430286G>A , CM000673.1:g.65430286G>A | GRCh37 |
| NC_000011.8:g.65186862G>A | NCBI36 |
| NG_029971.1:g.5158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406246.8:c.7+11C>T MANE Select | ENSP00000384273.3:n.7+11C>T | |
| ENST00000308639.13:c.7+11C>T | ENSP00000311508.9:n.7+11C>T | |
| ENST00000406246.7:c.7+11C>T | ENSP00000384273.3:n.7+11C>T | |
| ENST00000525301.5:n.93+11C>T | ||
| ENST00000525658.5:c.7+11C>T | ENSP00000434008.1:n.7+11C>T | |
| ENST00000525693.5:c.7+11C>T | ENSP00000432537.1:n.7+11C>T | |
| ENST00000525858.5:n.147+11C>T | ||
| ENST00000526283.6:c.7+11C>T | ENSP00000435290.1:n.7+11C>T | |
| ENST00000527074.5:n.93+11C>T | ||
| ENST00000527909.5:c.7+11C>T | ENSP00000432922.1:n.7+11C>T | |
| ENST00000529389.5:c.7+11C>T | ENSP00000437137.1:n.7+11C>T | |
| ENST00000531238.1:c.7+11C>T | ENSP00000434745.1:n.7+11C>T | |
| ENST00000531484.5:n.90+11C>T | ||
| ENST00000532776.5:n.119+11C>T | ||
| ENST00000532879.5:c.7+11C>T | ENSP00000431153.1:n.7+11C>T | |
| ENST00000532999.5:c.7+11C>T | ENSP00000433526.1:n.7+11C>T | |
| ENST00000533546.5:c.7+11C>T | ENSP00000433144.1:n.7+11C>T | |
| ENST00000534305.1:n.72+11C>T | ||
| ENST00000534558.5:c.7+11C>T | ENSP00000434372.1:n.7+11C>T | |
| ENST00000612991.4:c.7+11C>T | ENSP00000483705.1:n.7+11C>T | |
| ENST00000615805.4:c.7+11C>T | ENSP00000479572.1:n.7+11C>T | |
| NM_001145138.1:c.7+11C>T | NP_001138610.1:n.7+11C>T | |
| NM_001243984.1:c.7+11C>T | NP_001230913.1:n.7+11C>T | |
| NM_001243985.1:c.7+11C>T | NP_001230914.1:n.7+11C>T | |
| NM_021975.3:c.7+11C>T | NP_068810.3:n.7+11C>T | |
| XM_011545206.1:c.7+11C>T | XP_011543508.1:n.7+11C>T | |
| XM_011545207.1:c.7+11C>T | XP_011543509.1:n.7+11C>T | |
| XM_011545206.2:c.7+11C>T | XP_011543508.1:n.7+11C>T | |
| XM_011545207.2:c.7+11C>T | XP_011543509.1:n.7+11C>T | |
| NM_021975.4:c.7+11C>T MANE Select | NP_068810.3:n.7+11C>T | |
| NM_001145138.2:c.7+11C>T | NP_001138610.1:n.7+11C>T | |
| NM_001243984.2:c.7+11C>T | NP_001230913.1:n.7+11C>T | |
| NM_001243985.2:c.7+11C>T | NP_001230914.1:n.7+11C>T |