Linked Data
ClinVar Variation Id:
1371324
ClinVar RCV Id:
RCV001864506
dbSNP Id:
rs145901234
ExAC:
22:20024371 C / T
gnomAD v2:
22-20024371-C-T
gnomAD v3:
22-20036848-C-T
gnomAD v4:
22-20036848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20036848C>T , CM000684.2:g.20036848C>T | GRCh38 |
| NC_000022.10:g.20024371C>T , CM000684.1:g.20024371C>T | GRCh37 |
| NC_000022.9:g.18404371C>T | NCBI36 |
| NG_046857.1:g.24849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327374.9:c.50C>T MANE Select | ENSP00000332721.4:p.Ala17Val | |
| ENST00000327374.8:c.50C>T | ENSP00000332721.4:p.Ala17Val | |
| ENST00000398042.6:c.50C>T | ENSP00000381122.2:p.Ala17Val | |
| ENST00000399807.7:c.-68C>T | ENSP00000382706.3:n.-68C>T | |
| ENST00000401833.5:c.-68C>T | ENSP00000384827.1:n.-68C>T | |
| ENST00000401886.5:c.50C>T | ENSP00000385662.1:p.Ala17Val | |
| ENST00000411907.5:n.155C>T | ||
| ENST00000420290.6:c.50C>T | ENSP00000396182.3:p.Ala17Val | |
| ENST00000430807.5:c.50C>T | ENSP00000403432.1:p.Ala17Val | |
| ENST00000432198.5:c.50C>T | ENSP00000413850.1:p.Ala17Val | |
| ENST00000432883.5:c.-130C>T | ENSP00000402926.2:n.-130C>T | |
| ENST00000434168.5:c.50C>T | ENSP00000411602.1:p.Ala17Val | |
| ENST00000434570.6:c.-68C>T | ENSP00000391262.2:n.-68C>T | |
| ENST00000444651.5:c.50C>T | ENSP00000395816.1:p.Ala17Val | |
| ENST00000447208.6:c.50C>T | ENSP00000389797.3:p.Ala17Val | |
| ENST00000450019.5:c.50C>T | ENSP00000402966.1:p.Ala17Val | |
| ENST00000450664.5:c.50C>T | ENSP00000415450.1:p.Ala17Val | |
| ENST00000456048.5:c.-68C>T | ENSP00000403645.2:n.-68C>T | |
| ENST00000462579.5:n.90C>T | ||
| ENST00000471707.5:n.268C>T | ||
| ENST00000475446.5:n.251C>T | ||
| ENST00000479679.5:n.214C>T | ||
| ENST00000484373.5:n.89C>T | ||
| ENST00000485715.2:n.89C>T | ||
| NM_001283106.1:c.50C>T | NP_001270035.1:p.Ala17Val | |
| NM_001283116.1:c.50C>T | NP_001270045.1:p.Ala17Val | |
| NM_001283129.1:c.-68C>T | NP_001270058.1:n.-68C>T | |
| NM_001283148.1:c.50C>T | NP_001270077.1:p.Ala17Val | |
| NM_001283154.1:c.50C>T | NP_001270083.1:p.Ala17Val | |
| NM_001283179.1:c.50C>T | NP_001270108.1:p.Ala17Val | |
| NM_001283186.1:c.50C>T | NP_001270115.1:p.Ala17Val | |
| NM_001283199.1:c.50C>T | NP_001270128.1:p.Ala17Val | |
| NM_001283215.1:c.-68C>T | NP_001270144.1:n.-68C>T | |
| NM_001283235.1:c.-130C>T | NP_001270164.1:n.-130C>T | |
| NM_001283248.1:c.50C>T | NP_001270177.1:p.Ala17Val | |
| NM_152906.5:c.50C>T | NP_690870.3:p.Ala17Val | |
| NR_104274.1:n.155C>T | ||
| NR_104275.1:n.89C>T | ||
| XM_005261222.1:c.-68C>T | XP_005261279.1:n.-68C>T | |
| XM_005261223.3:c.50C>T | XP_005261280.1:p.Ala17Val | |
| XM_005261227.3:c.-130C>T | XP_005261284.1:n.-130C>T | |
| XM_005261228.1:c.-370C>T | XP_005261285.1:n.-370C>T | |
| XM_006724129.1:c.-130C>T | XP_006724192.1:n.-130C>T | |
| XM_011529860.1:c.50C>T | XP_011528162.1:p.Ala17Val | |
| XM_011529861.1:c.50C>T | XP_011528163.1:p.Ala17Val | |
| XM_011529863.1:c.-130C>T | XP_011528165.1:n.-130C>T | |
| XM_011529866.1:c.-130C>T | XP_011528168.1:n.-130C>T | |
| XM_011529867.1:c.-130C>T | XP_011528169.1:n.-130C>T | |
| NM_001283106.2:c.50C>T | NP_001270035.1:p.Ala17Val | |
| NM_001283116.2:c.50C>T | NP_001270045.1:p.Ala17Val | |
| NM_001283129.2:c.-68C>T | NP_001270058.1:n.-68C>T | |
| NM_001283148.2:c.50C>T | NP_001270077.1:p.Ala17Val | |
| NM_001283154.2:c.50C>T | NP_001270083.1:p.Ala17Val | |
| NM_001283179.2:c.50C>T | NP_001270108.1:p.Ala17Val | |
| NM_001283186.2:c.50C>T | NP_001270115.1:p.Ala17Val | |
| NM_001283199.2:c.50C>T | NP_001270128.1:p.Ala17Val | |
| NM_001283215.2:c.-68C>T | NP_001270144.1:n.-68C>T | |
| NM_001283235.2:c.-130C>T | NP_001270164.1:n.-130C>T | |
| NM_001283248.2:c.50C>T | NP_001270177.1:p.Ala17Val | |
| NM_001322141.1:c.-68C>T | NP_001309070.1:n.-68C>T | |
| NM_001322142.1:c.50C>T | NP_001309071.1:p.Ala17Val | |
| NM_001322143.1:c.-68C>T | NP_001309072.1:n.-68C>T | |
| NM_001322144.1:c.-68C>T | NP_001309073.1:n.-68C>T | |
| NM_001322145.1:c.-68C>T | NP_001309074.1:n.-68C>T | |
| NM_001322146.1:c.-130C>T | NP_001309075.1:n.-130C>T | |
| NM_001322147.1:c.-68C>T | NP_001309076.1:n.-68C>T | |
| NM_001322148.1:c.-370C>T | NP_001309077.1:n.-370C>T | |
| NM_001322149.1:c.-68C>T | NP_001309078.1:n.-68C>T | |
| NM_001322150.1:c.-370C>T | NP_001309079.1:n.-370C>T | |
| NM_001322153.1:c.-130C>T | NP_001309082.1:n.-130C>T | |
| NM_001322155.1:c.-130C>T | NP_001309084.1:n.-130C>T | |
| NM_001322160.1:c.-130C>T | NP_001309089.1:n.-130C>T | |
| NM_001322163.1:c.50C>T | NP_001309092.1:p.Ala17Val | |
| NM_001322166.1:c.50C>T | NP_001309095.1:p.Ala17Val | |
| NM_001322167.1:c.50C>T | NP_001309096.1:p.Ala17Val | |
| NM_001322169.1:c.50C>T | NP_001309098.1:p.Ala17Val | |
| NM_001322171.1:c.-130C>T | NP_001309100.1:n.-130C>T | |
| NM_001322172.1:c.-370C>T | NP_001309101.1:n.-370C>T | |
| NM_001322173.1:c.-370C>T | NP_001309102.1:n.-370C>T | |
| NM_001322174.1:c.-130C>T | NP_001309103.1:n.-130C>T | |
| NM_001322175.1:c.-130C>T | NP_001309104.1:n.-130C>T | |
| NM_152906.6:c.50C>T | NP_690870.3:p.Ala17Val | |
| NR_104274.2:n.155C>T | ||
| NR_104275.2:n.155C>T | ||
| NR_136206.1:n.228C>T | ||
| NR_136211.1:n.228C>T | ||
| NR_136212.1:n.228C>T | ||
| XM_017028577.1:c.50C>T | XP_016884066.1:p.Ala17Val | |
| XM_017028578.1:c.50C>T | XP_016884067.1:p.Ala17Val | |
| XM_017028579.1:c.50C>T | XP_016884068.1:p.Ala17Val | |
| XM_017028580.1:c.50C>T | XP_016884069.1:p.Ala17Val | |
| XM_017028581.1:c.-130C>T | XP_016884070.1:n.-130C>T | |
| XM_017028582.1:c.-130C>T | XP_016884071.1:n.-130C>T | |
| XM_017028583.1:c.-130C>T | XP_016884072.1:n.-130C>T | |
| XM_017028584.1:c.-370C>T | XP_016884073.1:n.-370C>T | |
| XM_017028585.1:c.50C>T | XP_016884074.1:p.Ala17Val | |
| XM_017028586.1:c.50C>T | XP_016884075.1:p.Ala17Val | |
| XM_017028587.1:c.-130C>T | XP_016884076.1:n.-130C>T | |
| XM_017028588.2:c.50C>T | XP_016884077.1:p.Ala17Val | |
| XM_024452157.1:c.-370C>T | XP_024307925.1:n.-370C>T | |
| XR_001755164.1:n.135C>T | ||
| XR_002958662.1:n.114C>T | ||
| NM_152906.7:c.50C>T MANE Select | NP_690870.3:p.Ala17Val | |
| NM_001283106.3:c.50C>T | NP_001270035.1:p.Ala17Val | |
| NM_001283116.3:c.50C>T | NP_001270045.1:p.Ala17Val | |
| NM_001283129.3:c.-68C>T | NP_001270058.1:n.-68C>T | |
| NM_001283148.3:c.50C>T | NP_001270077.1:p.Ala17Val | |
| NM_001283154.3:c.50C>T | NP_001270083.1:p.Ala17Val | |
| NM_001283179.3:c.50C>T | NP_001270108.1:p.Ala17Val | |
| NM_001283186.3:c.50C>T | NP_001270115.1:p.Ala17Val | |
| NM_001283199.3:c.50C>T | NP_001270128.1:p.Ala17Val | |
| NM_001283215.3:c.-68C>T | NP_001270144.1:n.-68C>T | |
| NM_001283235.3:c.-130C>T | NP_001270164.1:n.-130C>T | |
| NM_001283248.3:c.50C>T | NP_001270177.1:p.Ala17Val | |
| NM_001322141.2:c.-68C>T | NP_001309070.1:n.-68C>T | |
| NM_001322142.2:c.50C>T | NP_001309071.1:p.Ala17Val | |
| NM_001322143.2:c.-68C>T | NP_001309072.1:n.-68C>T | |
| NM_001322144.2:c.-68C>T | NP_001309073.1:n.-68C>T | |
| NM_001322145.2:c.-68C>T | NP_001309074.1:n.-68C>T | |
| NM_001322146.2:c.-130C>T | NP_001309075.1:n.-130C>T | |
| NM_001322147.2:c.-68C>T | NP_001309076.1:n.-68C>T | |
| NM_001322148.2:c.-370C>T | NP_001309077.1:n.-370C>T | |
| NM_001322149.2:c.-68C>T | NP_001309078.1:n.-68C>T | |
| NM_001322150.2:c.-370C>T | NP_001309079.1:n.-370C>T | |
| NM_001322153.2:c.-130C>T | NP_001309082.1:n.-130C>T | |
| NM_001322155.2:c.-130C>T | NP_001309084.1:n.-130C>T | |
| NM_001322160.2:c.-130C>T | NP_001309089.1:n.-130C>T | |
| NM_001322163.2:c.50C>T | NP_001309092.1:p.Ala17Val | |
| NM_001322166.2:c.50C>T | NP_001309095.1:p.Ala17Val | |
| NM_001322167.2:c.50C>T | NP_001309096.1:p.Ala17Val | |
| NM_001322169.2:c.50C>T | NP_001309098.1:p.Ala17Val | |
| NM_001322171.2:c.-130C>T | NP_001309100.1:n.-130C>T | |
| NM_001322172.2:c.-370C>T | NP_001309101.1:n.-370C>T | |
| NM_001322173.2:c.-370C>T | NP_001309102.1:n.-370C>T | |
| NM_001322174.2:c.-130C>T | NP_001309103.1:n.-130C>T | |
| NM_001322175.2:c.-130C>T | NP_001309104.1:n.-130C>T | |
| NR_104274.3:n.114C>T | ||
| NR_104275.3:n.114C>T | ||
| NR_136206.2:n.226C>T | ||
| NR_136211.2:n.226C>T |