ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000181 (EAS)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00002052 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197135090G>A , CM000663.2:g.197135090G>A | GRCh38 |
| NC_000001.10:g.197104220G>A , CM000663.1:g.197104220G>A | GRCh37 |
| NC_000001.9:g.195370843G>A | NCBI36 |
| NG_015867.1:g.16605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.2173+6C>T MANE Select | ENSP00000356379.4:n.2173+6C>T | |
| ENST00000680112.1:n.229+6C>T | ||
| ENST00000680265.1:c.2173+6C>T | ENSP00000505384.1:n.2173+6C>T | |
| ENST00000680710.1:c.2173+6C>T | ENSP00000506676.1:n.2173+6C>T | |
| ENST00000681879.1:c.2173+6C>T | ENSP00000505363.1:n.2173+6C>T | |
| ENST00000294732.11:c.2173+6C>T | ENSP00000294732.7:n.2173+6C>T | |
| ENST00000367408.5:c.-78+6C>T | ENSP00000356378.1:n.-78+6C>T | |
| ENST00000367409.8:c.2173+6C>T | ENSP00000356379.4:n.2173+6C>T | |
| ENST00000612785.1:c.561+8601C>T | ENSP00000479244.1:n.561+8601C>T | |
| NM_001206846.1:c.2173+6C>T | NP_001193775.1:n.2173+6C>T | |
| NM_018136.4:c.2173+6C>T | NP_060606.3:n.2173+6C>T | |
| NM_018136.5:c.2173+6C>T MANE Select | NP_060606.3:n.2173+6C>T | |
| NM_001206846.2:c.2173+6C>T | NP_001193775.1:n.2173+6C>T |