Linked Data
ClinVar Variation Id:
228567
dbSNP Id:
rs376530914
ExAC:
12:122710572 G / A
gnomAD v2:
12-122710572-G-A
gnomAD v3:
12-122226025-G-A
gnomAD v4:
12-122226025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122226025G>A , CM000674.2:g.122226025G>A | GRCh38 |
| NC_000012.11:g.122710572G>A , CM000674.1:g.122710572G>A | GRCh37 |
| NC_000012.10:g.121276525G>A | NCBI36 |
| NG_029459.1:g.6497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267169.11:c.-11C>T | ENSP00000267169.7:n.-11C>T | |
| ENST00000353548.11:c.-11C>T | ENSP00000320343.6:n.-11C>T | |
| ENST00000443649.9:c.-97C>T | ENSP00000398495.4:n.-97C>T | |
| ENST00000464942.7:c.-11C>T MANE Select | ENSP00000442360.2:n.-11C>T | |
| ENST00000541273.6:c.-11C>T | ENSP00000440971.2:n.-11C>T | |
| ENST00000644227.1:c.-11C>T | ENSP00000494535.1:n.-11C>T | |
| ENST00000644509.1:n.38C>T | ||
| ENST00000645606.1:c.*405C>T | ENSP00000493911.1:n.*405C>T | |
| ENST00000650715.1:c.-11C>T | ENSP00000499058.1:n.-11C>T | |
| ENST00000267169.10:c.-141C>T | ENSP00000267169.6:n.-141C>T | |
| ENST00000342392.3:c.-11C>T | ENSP00000339963.3:n.-11C>T | |
| ENST00000353548.10:c.-11C>T | ENSP00000320343.6:n.-11C>T | |
| ENST00000413918.5:c.-97C>T | ENSP00000411638.2:n.-97C>T | |
| ENST00000443649.7:c.-11C>T | ENSP00000398495.3:n.-11C>T | |
| ENST00000464942.6:c.-1357C>T | ENSP00000442360.1:n.-1357C>T | |
| ENST00000485724.1:c.-264+1331C>T | ENSP00000438710.1:n.-264+1331C>T | |
| ENST00000535844.1:c.1594+6301C>T | ENSP00000454454.1:n.1594+6301C>T | |
| ENST00000541273.5:c.-141C>T | ENSP00000440971.1:n.-141C>T | |
| NM_001278302.1:c.-141C>T | NP_001265231.1:n.-141C>T | |
| NM_001278303.1:c.-97C>T | NP_001265232.1:n.-97C>T | |
| NM_001278342.1:c.-11C>T | NP_001265271.1:n.-11C>T | |
| NM_019887.5:c.-11C>T | NP_063940.1:n.-11C>T | |
| NM_138930.3:c.-141C>T | NP_620308.1:n.-141C>T | |
| NM_001371333.1:c.-11C>T MANE Select | NP_001358262.1:n.-11C>T | |
| NM_019887.6:c.-11C>T | NP_063940.1:n.-11C>T |