ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042888 (MID)
Exomes Max Group AF
0.00045291 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63968059C>T , CM000679.2:g.63968059C>T | GRCh38 |
| NC_000017.10:g.62045419C>T , CM000679.1:g.62045419C>T | GRCh37 |
| NC_000017.9:g.59399151C>T | NCBI36 |
| NG_011699.1:g.9860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1000G>A MANE Select | ENSP00000396320.1:p.Asp334Asn | |
| ENST00000578147.5:c.1000G>A | ENSP00000463963.1:p.Asp334Asn | |
| NM_000334.4:c.1000G>A MANE Select | NP_000325.4:p.Asp334Asn | |
| XM_005257566.3:c.1000G>A | XP_005257623.1:p.Asp334Asn |