gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002254 (AMR)
Genomes Max Group AF
0.00002258 (AMR)
Exomes Max Group AF
0.00001093 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010893A>G , CM000664.2:g.189010893A>G | GRCh38 |
| NC_000002.11:g.189875619A>G , CM000664.1:g.189875619A>G | GRCh37 |
| NC_000002.10:g.189583864A>G | NCBI36 |
| NG_007404.1:g.41521A>G , LRG_3:g.41521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.4155+3A>G | ENSP00000415346.2:n.4155+3A>G | |
| ENST00000304636.9:c.4254+3A>G MANE Select | ENSP00000304408.4:n.4254+3A>G | |
| ENST00000304636.7:c.4254+3A>G | ENSP00000304408.3:n.4254+3A>G | |
| ENST00000317840.9:c.3345+3A>G | ENSP00000315243.6:n.3345+3A>G | |
| ENST00000487010.1:n.1633+3A>G | ||
| NM_000090.3:c.4254+3A>G , LRG_3t1:c.4254+3A>G | NP_000081.1:n.4254+3A>G | |
| NM_000090.4:c.4254+3A>G MANE Select | NP_000081.2:n.4254+3A>G |