ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010262 (AFR)
Genomes Max Group AF
0.00007902 (AFR)
Exomes Max Group AF
0.00010432 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63951483C>T , CM000679.2:g.63951483C>T | GRCh38 |
| NC_000017.10:g.62028843C>T , CM000679.1:g.62028843C>T | GRCh37 |
| NC_000017.9:g.59382575C>T | NCBI36 |
| NG_011699.1:g.26436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2794G>A MANE Select | ENSP00000396320.1:p.Asp932Asn | |
| ENST00000578147.5:c.2794G>A | ENSP00000463963.1:p.Asp932Asn | |
| NM_000334.4:c.2794G>A MANE Select | NP_000325.4:p.Asp932Asn | |
| XM_005257566.3:c.2794G>A | XP_005257623.1:p.Asp932Asn |