ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00601127 (AFR)
Genomes Max Group AF
0.00593589 (AFR)
Exomes Max Group AF
0.00567462 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841223T>C , CM000674.2:g.32841223T>C | GRCh38 |
| NC_000012.11:g.32994157T>C , CM000674.1:g.32994157T>C | GRCh37 |
| NC_000012.10:g.32885424T>C | NCBI36 |
| NG_009000.1:g.60624A>G , LRG_398:g.60624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1379-18A>G | ENSP00000515065.2:n.1379-18A>G | |
| ENST00000700563.2:c.1379-18A>G | ENSP00000515066.2:n.1379-18A>G | |
| ENST00000700559.1:c.594-18A>G | ||
| ENST00000700560.1:n.594-18A>G | ||
| ENST00000700561.1:n.720-18A>G | ||
| ENST00000700563.1:c.1333-18A>G | ||
| ENST00000700564.1:n.1383-18A>G | ||
| ENST00000700565.1:n.1232-18A>G | ||
| ENST00000070846.11:c.1511-18A>G | ENSP00000070846.6:n.1511-18A>G | |
| ENST00000340811.9:c.1379-18A>G MANE Select | ENSP00000342800.5:n.1379-18A>G | |
| ENST00000070846.10:c.1511-18A>G | ENSP00000070846.6:n.1511-18A>G | |
| ENST00000340811.8:c.1379-18A>G | ENSP00000342800.4:n.1379-18A>G | |
| ENST00000613243.1:c.1511-18A>G | ENSP00000478295.1:n.1511-18A>G | |
| NM_001005242.2:c.1379-18A>G | NP_001005242.2:n.1379-18A>G | |
| NM_004572.3:c.1511-18A>G , LRG_398t1:c.1511-18A>G | NP_004563.2:n.1511-18A>G | |
| NM_001005242.3:c.1379-18A>G MANE Select | NP_001005242.2:n.1379-18A>G | |
| NM_004572.4:c.1511-18A>G | NP_004563.2:n.1511-18A>G |