gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001299 (NFE)
Exomes Max Group AF
0.00001379 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17053947C>A , CM000663.2:g.17053947C>A | GRCh38 |
| NC_000001.10:g.17380442C>A , CM000663.1:g.17380442C>A | GRCh37 |
| NC_000001.9:g.17253029C>A | NCBI36 |
| NG_012340.1:g.5224G>T , LRG_316:g.5224G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375499.8:c.72+1G>T MANE Select | ENSP00000364649.3:n.72+1G>T | |
| ENST00000375499.7:c.72+1G>T | ENSP00000364649.3:n.72+1G>T | |
| ENST00000466613.2:n.84+1G>T | ||
| ENST00000485515.5:n.60+1G>T | ||
| NM_003000.2:c.72+1G>T , LRG_316t1:c.72+1G>T | NP_002991.2:n.72+1G>T | |
| NM_003000.3:c.72+1G>T MANE Select | NP_002991.2:n.72+1G>T |