gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038741 (NFE)
Genomes Max Group AF
0.00030401 (NFE)
Exomes Max Group AF
0.00038596 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7555825G>A , CM000668.2:g.7555825G>A | GRCh38 |
| NC_000006.11:g.7556058G>A , CM000668.1:g.7556058G>A | GRCh37 |
| NC_000006.10:g.7501057G>A | NCBI36 |
| NG_008803.1:g.19189G>A , LRG_423:g.19189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.278G>A | ENSP00000508162.2:p.Ser93Asn | |
| ENST00000710359.1:c.273+5G>A | ENSP00000518230.1:n.273+5G>A | |
| ENST00000683563.1:n.165+5G>A | ||
| ENST00000683682.1:c.173G>A | ENSP00000508162.1:p.Ser58Asn | |
| ENST00000379802.8:c.273+5G>A MANE Select | ENSP00000369129.3:n.273+5G>A | |
| ENST00000379802.7:c.273+5G>A | ENSP00000369129.3:n.273+5G>A | |
| ENST00000418664.2:c.273+5G>A | ENSP00000396591.2:n.273+5G>A | |
| NM_001008844.1:c.273+5G>A | NP_001008844.1:n.273+5G>A | |
| NM_004415.2:c.273+5G>A , LRG_423t1:c.273+5G>A | NP_004406.2:n.273+5G>A | |
| XM_011514323.1:c.273+5G>A | XP_011512625.1:n.273+5G>A | |
| NM_001008844.2:c.273+5G>A | NP_001008844.1:n.273+5G>A | |
| NM_001319034.1:c.273+5G>A | NP_001305963.1:n.273+5G>A | |
| NM_004415.3:c.273+5G>A | NP_004406.2:n.273+5G>A | |
| NM_004415.4:c.273+5G>A MANE Select | NP_004406.2:n.273+5G>A | |
| NM_001008844.3:c.273+5G>A | NP_001008844.1:n.273+5G>A | |
| NM_001319034.2:c.273+5G>A | NP_001305963.1:n.273+5G>A |