ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001963 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001915 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108927445A>T , CM000671.2:g.108927445A>T | GRCh38 |
| NC_000009.11:g.111689725A>T , CM000671.1:g.111689725A>T | GRCh37 |
| NC_000009.10:g.110729546A>T | NCBI36 |
| NG_008788.1:g.11884T>A , LRG_251:g.11884T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.312T>A MANE Select | ENSP00000363779.5:p.Cys104Ter | |
| ENST00000495759.6:c.312T>A | ENSP00000433514.2:p.Cys104Ter | |
| ENST00000674535.1:c.312T>A | ENSP00000502142.1:p.Cys104Ter | |
| ENST00000674704.1:n.628T>A | ||
| ENST00000674836.1:n.617T>A | ||
| ENST00000674890.1:c.312T>A | ENSP00000501870.1:p.Cys104Ter | |
| ENST00000674938.1:c.-31T>A | ENSP00000502427.1:n.-31T>A | |
| ENST00000674948.1:c.-31T>A | ENSP00000501602.1:n.-31T>A | |
| ENST00000675052.1:c.312T>A | ENSP00000502664.1:p.Cys104Ter | |
| ENST00000675078.1:c.312T>A | ENSP00000501549.1:p.Cys104Ter | |
| ENST00000675215.1:c.312T>A | ENSP00000502558.1:p.Cys104Ter | |
| ENST00000675233.1:n.617T>A | ||
| ENST00000675321.1:c.312T>A | ENSP00000502751.1:p.Cys104Ter | |
| ENST00000675325.1:n.617T>A | ||
| ENST00000675335.1:c.312T>A | ENSP00000502182.1:p.Cys104Ter | |
| ENST00000675400.1:n.494T>A | ||
| ENST00000675406.1:c.312T>A | ENSP00000501893.1:p.Cys104Ter | |
| ENST00000675458.1:c.312T>A | ENSP00000501754.1:p.Cys104Ter | |
| ENST00000675507.1:n.617T>A | ||
| ENST00000675535.1:c.312T>A | ENSP00000501667.1:p.Cys104Ter | |
| ENST00000675566.1:n.617T>A | ||
| ENST00000675602.1:n.620T>A | ||
| ENST00000675647.1:n.617T>A | ||
| ENST00000675711.1:c.312T>A | ENSP00000502485.1:p.Cys104Ter | |
| ENST00000675727.1:c.312T>A | ENSP00000501722.1:p.Cys104Ter | |
| ENST00000675748.1:n.455T>A | ||
| ENST00000675765.1:c.312T>A | ENSP00000502640.1:p.Cys104Ter | |
| ENST00000675825.1:c.312T>A | ENSP00000502632.1:p.Cys104Ter | |
| ENST00000675877.1:n.617T>A | ||
| ENST00000675893.1:c.312T>A | ENSP00000502001.1:p.Cys104Ter | |
| ENST00000675938.1:n.648T>A | ||
| ENST00000675943.1:n.617T>A | ||
| ENST00000675979.1:c.312T>A | ENSP00000502208.1:p.Cys104Ter | |
| ENST00000676044.1:c.312T>A | ENSP00000502378.1:p.Cys104Ter | |
| ENST00000676086.1:n.617T>A | ||
| ENST00000676121.1:n.649T>A | ||
| ENST00000676237.1:c.312T>A | ENSP00000501828.1:p.Cys104Ter | |
| ENST00000676416.1:c.-31T>A | ENSP00000501660.1:n.-31T>A | |
| ENST00000676424.1:n.617T>A | ||
| ENST00000676429.1:n.3290T>A | ||
| ENST00000374647.9:c.312T>A | ENSP00000363779.5:p.Cys104Ter | |
| ENST00000537196.1:c.-308+6419T>A | ENSP00000439367.1:n.-308+6419T>A | |
| NM_003640.3:c.312T>A , LRG_251t1:c.312T>A | NP_003631.2:p.Cys104Ter | |
| XM_005252285.2:c.-31T>A | XP_005252342.1:n.-31T>A | |
| XM_011519136.1:c.312T>A | XP_011517438.1:p.Cys104Ter | |
| XM_011519137.1:c.-31T>A | XP_011517439.1:n.-31T>A | |
| XR_929859.1:n.628T>A | ||
| NM_001318360.1:c.-31T>A | NP_001305289.1:n.-31T>A | |
| NM_001330749.1:c.-548T>A | NP_001317678.1:n.-548T>A | |
| NM_003640.4:c.312T>A | NP_003631.2:p.Cys104Ter | |
| XM_011519136.2:c.312T>A | XP_011517438.1:p.Cys104Ter | |
| XR_929859.3:n.639T>A | ||
| NM_003640.5:c.312T>A MANE Select | NP_003631.2:p.Cys104Ter | |
| NM_001318360.2:c.-31T>A | NP_001305289.1:n.-31T>A | |
| NM_001330749.2:c.-548T>A | NP_001317678.1:n.-548T>A |