Linked Data
ClinVar Variation Id:
754322
ClinVar RCV Id:
RCV000931637
dbSNP Id:
rs779109159
ExAC:
12:69047885 A / T
gnomAD v2:
12-69047885-A-T
gnomAD v3:
12-68654105-A-T
gnomAD v4:
12-68654105-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68654105A>T , CM000674.2:g.68654105A>T | GRCh38 |
| NC_000012.11:g.69047885A>T , CM000674.1:g.69047885A>T | GRCh37 |
| NC_000012.10:g.67334152A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250559.14:c.184-7A>T MANE Select | ENSP00000250559.9:n.184-7A>T | |
| ENST00000250559.13:c.184-7A>T | ENSP00000250559.9:n.184-7A>T | |
| ENST00000341355.9:c.184-7A>T | ENSP00000441275.1:n.184-7A>T | |
| ENST00000378985.7:c.-15-7A>T | ENSP00000368270.3:n.-15-7A>T | |
| ENST00000393436.9:c.184-7A>T | ENSP00000377085.5:n.184-7A>T | |
| ENST00000425247.6:c.184-7A>T | ENSP00000401095.2:n.184-7A>T | |
| ENST00000450214.6:c.58-7A>T | ENSP00000399986.2:n.58-7A>T | |
| ENST00000453560.6:c.184-7A>T | ENSP00000444060.1:n.184-7A>T | |
| ENST00000463493.5:n.162-7A>T | ||
| ENST00000534899.5:c.184-7A>T | ENSP00000441952.1:n.184-7A>T | |
| ENST00000535492.5:c.-2-20A>T | ENSP00000443775.1:n.-2-20A>T | |
| ENST00000537460.5:c.184-7A>T | ENSP00000439966.1:n.184-7A>T | |
| ENST00000538283.5:c.184-7A>T | ENSP00000444786.1:n.184-7A>T | |
| ENST00000538980.5:c.31-7A>T | ENSP00000444467.1:n.31-7A>T | |
| ENST00000539091.5:c.58-7A>T | ENSP00000444830.1:n.58-7A>T | |
| ENST00000540209.5:c.127-7A>T | ENSP00000446318.1:n.127-7A>T | |
| ENST00000540781.5:c.184-7A>T | ENSP00000440466.1:n.184-7A>T | |
| ENST00000541167.5:c.184-7A>T | ENSP00000445138.1:n.184-7A>T | |
| ENST00000541216.1:c.184-7A>T | ENSP00000443851.1:n.184-7A>T | |
| ENST00000541968.1:n.371-7A>T | ||
| ENST00000542018.5:c.184-7A>T | ENSP00000438088.1:n.184-7A>T | |
| ENST00000542145.5:c.183+2054A>T | ENSP00000440014.1:n.183+2054A>T | |
| ENST00000543393.5:c.-15-7A>T | ENSP00000445090.1:n.-15-7A>T | |
| ENST00000543697.5:c.184-7A>T | ENSP00000440708.1:n.184-7A>T | |
| ENST00000544639.1:n.283-7A>T | ||
| ENST00000545270.5:c.184-7A>T | ENSP00000437415.1:n.184-7A>T | |
| ENST00000545720.6:c.184-7A>T | ENSP00000438311.1:n.184-7A>T | |
| NM_001010942.2:c.184-7A>T | NP_001010942.1:n.184-7A>T | |
| NM_001251917.1:c.58-7A>T | NP_001238846.1:n.58-7A>T | |
| NM_001251918.1:c.58-7A>T | NP_001238847.1:n.58-7A>T | |
| NM_001251921.1:c.127-7A>T | NP_001238850.1:n.127-7A>T | |
| NM_001251922.1:c.183+2054A>T | NP_001238851.1:n.183+2054A>T | |
| NM_015646.5:c.184-7A>T | NP_056461.1:n.184-7A>T | |
| NM_001010942.3:c.184-7A>T MANE Select | NP_001010942.1:n.184-7A>T | |
| NM_001251917.2:c.58-7A>T | NP_001238846.1:n.58-7A>T | |
| NM_001251918.2:c.58-7A>T | NP_001238847.1:n.58-7A>T | |
| NM_001251921.2:c.127-7A>T | NP_001238850.1:n.127-7A>T | |
| NM_001251922.2:c.183+2054A>T | NP_001238851.1:n.183+2054A>T | |
| NM_015646.6:c.184-7A>T | NP_056461.1:n.184-7A>T |