ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00225013 (AFR)
Genomes Max Group AF
0.0021998 (AFR)
Exomes Max Group AF
0.00205233 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108874957T>C , CM000671.2:g.108874957T>C | GRCh38 |
| NC_000009.11:g.111637237T>C , CM000671.1:g.111637237T>C | GRCh37 |
| NC_000009.10:g.110677058T>C | NCBI36 |
| NG_008788.1:g.64372A>G , LRG_251:g.64372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3869A>G MANE Select | ENSP00000363779.5:p.Asn1290Ser | |
| ENST00000495759.6:c.*2479A>G | ENSP00000433514.2:n.*2479A>G | |
| ENST00000674535.1:c.3855+3038A>G | ENSP00000502142.1:n.3855+3038A>G | |
| ENST00000674704.1:n.6954A>G | ||
| ENST00000674740.1:n.752A>G | ||
| ENST00000674836.1:n.4482A>G | ||
| ENST00000674890.1:c.*1104A>G | ENSP00000501870.1:n.*1104A>G | |
| ENST00000674938.1:c.3527A>G | ENSP00000502427.1:p.Asn1176Ser | |
| ENST00000674948.1:c.3527A>G | ENSP00000501602.1:p.Asn1176Ser | |
| ENST00000675052.1:c.3869A>G | ENSP00000502664.1:p.Asn1290Ser | |
| ENST00000675078.1:c.*72A>G | ENSP00000501549.1:n.*72A>G | |
| ENST00000675215.1:c.*3093A>G | ENSP00000502558.1:n.*3093A>G | |
| ENST00000675233.1:n.5696A>G | ||
| ENST00000675252.1:n.1745A>G | ||
| ENST00000675321.1:c.3757A>G | ENSP00000502751.1:n.3757A>G | |
| ENST00000675325.1:n.5826A>G | ||
| ENST00000675335.1:c.3900A>G | ENSP00000502182.1:n.3900A>G | |
| ENST00000675400.1:n.5721A>G | ||
| ENST00000675406.1:c.3869A>G | ENSP00000501893.1:p.Asn1290Ser | |
| ENST00000675458.1:c.3962A>G | ENSP00000501754.1:n.3962A>G | |
| ENST00000675507.1:n.5768A>G | ||
| ENST00000675535.1:c.*1496A>G | ENSP00000501667.1:n.*1496A>G | |
| ENST00000675566.1:n.5720A>G | ||
| ENST00000675580.1:n.1022A>G | ||
| ENST00000675602.1:n.6917A>G | ||
| ENST00000675647.1:n.5033A>G | ||
| ENST00000675711.1:c.3986A>G | ENSP00000502485.1:n.3986A>G | |
| ENST00000675727.1:c.*169A>G | ENSP00000501722.1:n.*169A>G | |
| ENST00000675748.1:n.5503A>G | ||
| ENST00000675765.1:c.*1252A>G | ENSP00000502640.1:n.*1252A>G | |
| ENST00000675825.1:c.3911A>G | ENSP00000502632.1:p.Asn1304Ser | |
| ENST00000675877.1:n.5713A>G | ||
| ENST00000675893.1:c.*4938A>G | ENSP00000502001.1:n.*4938A>G | |
| ENST00000675943.1:n.7484A>G | ||
| ENST00000675979.1:c.*3112A>G | ENSP00000502208.1:n.*3112A>G | |
| ENST00000676044.1:c.*1529A>G | ENSP00000502378.1:n.*1529A>G | |
| ENST00000676086.1:n.5654A>G | ||
| ENST00000676121.1:n.5697A>G | ||
| ENST00000676162.1:n.598A>G | ||
| ENST00000676237.1:c.3812A>G | ENSP00000501828.1:p.Asn1271Ser | |
| ENST00000676416.1:c.3569A>G | ENSP00000501660.1:p.Asn1190Ser | |
| ENST00000676424.1:n.5707A>G | ||
| ENST00000676429.1:n.8338A>G | ||
| ENST00000374647.9:c.3869A>G | ENSP00000363779.5:p.Asn1290Ser | |
| ENST00000495759.5:c.1112A>G | ||
| ENST00000537196.1:c.2822A>G | ENSP00000439367.1:p.Asn941Ser | |
| NM_003640.3:c.3869A>G , LRG_251t1:c.3869A>G | NP_003631.2:p.Asn1290Ser | |
| XM_005252285.2:c.3527A>G | XP_005252342.1:p.Asn1176Ser | |
| XM_011519136.1:c.3911A>G | XP_011517438.1:p.Asn1304Ser | |
| XM_011519137.1:c.3569A>G | XP_011517439.1:p.Asn1190Ser | |
| NM_001318360.1:c.3527A>G | NP_001305289.1:p.Asn1176Ser | |
| NM_001330749.1:c.2822A>G | NP_001317678.1:p.Asn941Ser | |
| NM_003640.4:c.3869A>G | NP_003631.2:p.Asn1290Ser | |
| XM_011519136.2:c.3911A>G | XP_011517438.1:p.Asn1304Ser | |
| XR_929859.3:n.4258A>G | ||
| NM_003640.5:c.3869A>G MANE Select | NP_003631.2:p.Asn1290Ser | |
| NM_001318360.2:c.3527A>G | NP_001305289.1:p.Asn1176Ser | |
| NM_001330749.2:c.2822A>G | NP_001317678.1:p.Asn941Ser |