ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001995 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88583474A>G , CM000664.2:g.88583474A>G | GRCh38 |
| NC_000002.11:g.88882992A>G , CM000664.1:g.88882992A>G | GRCh37 |
| NC_000002.10:g.88664107A>G | NCBI36 |
| NG_016424.1:g.49103T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682276.1:n.1164T>C | ||
| ENST00000682892.1:c.1266T>C | ENSP00000507214.1:p.Asn422= | |
| ENST00000682952.1:n.1358T>C | ||
| ENST00000684455.1:c.932T>C | ||
| ENST00000684642.1:c.1116T>C | ENSP00000507355.1:p.Asn372= | |
| ENST00000303236.9:c.1719T>C MANE Select | ENSP00000307235.3:p.Asn573= | |
| ENST00000652099.1:c.1913T>C | ||
| ENST00000652736.1:n.1595T>C | ||
| ENST00000303236.7:c.1719T>C | ENSP00000307235.3:p.Asn573= | |
| ENST00000415570.1:c.1356T>C | ENSP00000412076.1:p.Asn452= | |
| ENST00000419748.5:c.1266T>C | ENSP00000408325.1:p.Asn422= | |
| NM_001313915.1:c.1266T>C | NP_001300844.1:p.Asn422= | |
| NM_004836.5:c.1719T>C | NP_004827.4:p.Asn573= | |
| NM_004836.6:c.1719T>C | NP_004827.4:p.Asn573= | |
| XM_005264649.3:c.1035T>C | XP_005264706.1:p.Asn345= | |
| XR_939749.1:n.1928T>C | ||
| XM_017005376.2:c.1035T>C | XP_016860865.1:p.Asn345= | |
| NM_004836.7:c.1719T>C MANE Select | NP_004827.4:p.Asn573= | |
| NM_001313915.2:c.1266T>C | NP_001300844.1:p.Asn422= |