Linked Data
ClinVar Variation Id:
228574
dbSNP Id:
rs370571609
ExAC:
12:122702807 A / T
gnomAD v2:
12-122702807-A-T
gnomAD v3:
12-122218260-A-T
gnomAD v4:
12-122218260-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122218260A>T , CM000674.2:g.122218260A>T | GRCh38 |
| NC_000012.11:g.122702807A>T , CM000674.1:g.122702807A>T | GRCh37 |
| NC_000012.10:g.121268760A>T | NCBI36 |
| NG_029459.1:g.14262T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267169.11:c.315+6T>A | ENSP00000267169.7:n.315+6T>A | |
| ENST00000353548.11:c.184-1391T>A | ENSP00000320343.6:n.184-1391T>A | |
| ENST00000439489.6:c.24+6T>A | ENSP00000390818.2:n.24+6T>A | |
| ENST00000443649.9:c.96+6T>A | ENSP00000398495.4:n.96+6T>A | |
| ENST00000464942.7:c.315+6T>A MANE Select | ENSP00000442360.2:n.315+6T>A | |
| ENST00000540535.6:c.*229+6T>A | ENSP00000441139.2:n.*229+6T>A | |
| ENST00000541273.6:c.*14-1391T>A | ENSP00000440971.2:n.*14-1391T>A | |
| ENST00000541656.6:c.452+6T>A | ||
| ENST00000642640.1:n.2159+6T>A | ||
| ENST00000644227.1:c.*95+6T>A | ENSP00000494535.1:n.*95+6T>A | |
| ENST00000644509.1:n.1550+6T>A | ||
| ENST00000645569.1:n.1643+6T>A | ||
| ENST00000645606.1:c.*730+6T>A | ENSP00000493911.1:n.*730+6T>A | |
| ENST00000650715.1:c.315+6T>A | ENSP00000499058.1:n.315+6T>A | |
| ENST00000267169.10:c.156+6T>A | ENSP00000267169.6:n.156+6T>A | |
| ENST00000342392.3:c.*145+6T>A | ENSP00000339963.3:n.*145+6T>A | |
| ENST00000353548.10:c.184-1391T>A | ENSP00000320343.6:n.184-1391T>A | |
| ENST00000413918.5:c.96+6T>A | ENSP00000411638.2:n.96+6T>A | |
| ENST00000443649.7:c.315+6T>A | ENSP00000398495.3:n.315+6T>A | |
| ENST00000446652.5:c.310+6T>A | ||
| ENST00000464942.6:c.156+6T>A | ENSP00000442360.1:n.156+6T>A | |
| ENST00000474004.6:c.96+6T>A | ENSP00000442669.1:n.96+6T>A | |
| ENST00000485724.1:c.96+6T>A | ENSP00000438710.1:n.96+6T>A | |
| ENST00000489781.2:n.149T>A | ||
| ENST00000535844.1:c.*109+6T>A | ENSP00000454454.1:n.*109+6T>A | |
| ENST00000540535.5:c.96+6T>A | ENSP00000441139.1:n.96+6T>A | |
| ENST00000541273.5:c.25-1391T>A | ENSP00000440971.1:n.25-1391T>A | |
| ENST00000541656.5:c.96+6T>A | ENSP00000440653.1:n.96+6T>A | |
| NM_001278302.1:c.25-1391T>A | NP_001265231.1:n.25-1391T>A | |
| NM_001278303.1:c.96+6T>A | NP_001265232.1:n.96+6T>A | |
| NM_001278304.1:c.156+6T>A | NP_001265233.1:n.156+6T>A | |
| NM_001278342.1:c.184-1391T>A | NP_001265271.1:n.184-1391T>A | |
| NM_019887.5:c.315+6T>A | NP_063940.1:n.315+6T>A | |
| NM_138930.3:c.156+6T>A | NP_620308.1:n.156+6T>A | |
| NM_001278304.2:c.156+6T>A | NP_001265233.1:n.156+6T>A | |
| NM_001371333.1:c.315+6T>A MANE Select | NP_001358262.1:n.315+6T>A | |
| NM_019887.6:c.315+6T>A | NP_063940.1:n.315+6T>A |