gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015374 (SAS)
Genomes Max Group AF
0.00028305 (SAS)
Exomes Max Group AF
0.00012471 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819537G>A , CM000672.2:g.71819537G>A | GRCh38 |
| NC_000010.10:g.73579294G>A , CM000672.1:g.73579294G>A | GRCh37 |
| NC_000010.9:g.73249300G>A | NCBI36 |
| NG_009301.1:g.36789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1278C>T MANE Select | ENSP00000378394.3:p.Asn426= | |
| ENST00000394934.4:c.1287C>T | ENSP00000378392.2:p.Asn429= | |
| ENST00000394936.7:c.1278C>T | ENSP00000378394.3:p.Asn426= | |
| ENST00000610929.3:c.426C>T | ENSP00000480857.1:p.Asn142= | |
| NM_001042465.1:c.1287C>T | NP_001035930.1:p.Asn429= | |
| NM_001042466.1:c.1284C>T | NP_001035931.1:p.Asn428= | |
| NM_002778.2:c.1278C>T | NP_002769.1:p.Asn426= | |
| NM_001042465.2:c.1287C>T | NP_001035930.1:p.Asn429= | |
| NM_001042466.2:c.1284C>T | NP_001035931.1:p.Asn428= | |
| NM_002778.3:c.1278C>T | NP_002769.1:p.Asn426= | |
| NM_002778.4:c.1278C>T MANE Select | NP_002769.1:p.Asn426= | |
| NM_001042465.3:c.1287C>T | NP_001035930.1:p.Asn429= | |
| NM_001042466.3:c.1284C>T | NP_001035931.1:p.Asn428= |