Linked Data
ClinVar Variation Id:
310112
dbSNP Id:
rs200194581
ExAC:
12:6442526 C / A
gnomAD v2:
12-6442526-C-A
gnomAD v3:
12-6333360-C-A
gnomAD v4:
12-6333360-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333360C>A , CM000674.2:g.6333360C>A | GRCh38 |
| NC_000012.11:g.6442526C>A , CM000674.1:g.6442526C>A | GRCh37 |
| NC_000012.10:g.6312787C>A | NCBI36 |
| NG_007506.1:g.13736G>T , LRG_193:g.13736G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.506+7G>T | ||
| ENST00000437813.8:c.472+7G>T | ENSP00000513672.1:n.472+7G>T | |
| ENST00000440083.7:c.479G>T | ENSP00000413224.3:p.Arg160Leu | |
| ENST00000535958.2:c.*299+7G>T | ENSP00000513673.1:n.*299+7G>T | |
| ENST00000698339.1:c.472+7G>T | ENSP00000513670.1:n.472+7G>T | |
| ENST00000698340.1:c.472+7G>T | ENSP00000513671.1:n.472+7G>T | |
| ENST00000162749.7:c.472+7G>T MANE Select | ENSP00000162749.2:n.472+7G>T | |
| ENST00000162749.6:c.472+7G>T | ENSP00000162749.2:n.472+7G>T | |
| ENST00000366159.8:c.472+7G>T | ENSP00000380389.3:n.472+7G>T | |
| ENST00000437813.7:n.433+7G>T | ||
| ENST00000440083.6:c.479G>T | ENSP00000413224.2:p.Arg160Leu | |
| ENST00000534885.5:c.318+7G>T | ENSP00000441803.1:n.318+7G>T | |
| ENST00000537842.5:n.76+7G>T | ||
| ENST00000539372.5:c.472+7G>T | ENSP00000442059.1:n.472+7G>T | |
| ENST00000540022.5:c.343+7G>T | ENSP00000438343.1:n.343+7G>T | |
| ENST00000543048.5:c.*83+7G>T | ENSP00000439981.1:n.*83+7G>T | |
| ENST00000543995.5:c.*59+7G>T | ENSP00000442405.1:n.*59+7G>T | |
| NM_001065.3:c.472+7G>T , LRG_193t1:c.472+7G>T | NP_001056.1:n.472+7G>T | |
| NM_001346091.1:c.148+7G>T | NP_001333020.1:n.148+7G>T | |
| NM_001346092.1:c.-106+7G>T | NP_001333021.1:n.-106+7G>T | |
| NR_144351.1:n.775+7G>T | ||
| NM_001065.4:c.472+7G>T MANE Select | NP_001056.1:n.472+7G>T | |
| NM_001346091.2:c.148+7G>T | NP_001333020.1:n.148+7G>T | |
| NM_001346092.2:c.-106+7G>T | NP_001333021.1:n.-106+7G>T | |
| NR_144351.2:n.734+7G>T |