Revel Score:
ENST00000374647 (MANE Select)
0.130
ENST00000537196
0.130
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108891284T>C , CM000671.2:g.108891284T>C | GRCh38 |
| NC_000009.11:g.111653564T>C , CM000671.1:g.111653564T>C | GRCh37 |
| NC_000009.10:g.110693385T>C | NCBI36 |
| NG_008788.1:g.48045A>G , LRG_251:g.48045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3079A>G MANE Select | ENSP00000363779.5:p.Asn1027Asp | |
| ENST00000495759.6:c.*1689A>G | ENSP00000433514.2:n.*1689A>G | |
| ENST00000674535.1:c.3079A>G | ENSP00000502142.1:p.Asn1027Asp | |
| ENST00000674704.1:n.6164A>G | ||
| ENST00000674836.1:n.3692A>G | ||
| ENST00000674890.1:c.*314A>G | ENSP00000501870.1:n.*314A>G | |
| ENST00000674938.1:c.2737A>G | ENSP00000502427.1:p.Asn913Asp | |
| ENST00000674948.1:c.2737A>G | ENSP00000501602.1:p.Asn913Asp | |
| ENST00000675052.1:c.3079A>G | ENSP00000502664.1:p.Asn1027Asp | |
| ENST00000675078.1:c.3079A>G | ENSP00000501549.1:p.Asn1027Asp | |
| ENST00000675215.1:c.*2303A>G | ENSP00000502558.1:n.*2303A>G | |
| ENST00000675233.1:n.4906A>G | ||
| ENST00000675321.1:c.3079A>G | ENSP00000502751.1:p.Asn1027Asp | |
| ENST00000675325.1:n.5036A>G | ||
| ENST00000675335.1:c.3110A>G | ENSP00000502182.1:n.3110A>G | |
| ENST00000675400.1:n.4814A>G | ||
| ENST00000675406.1:c.3079A>G | ENSP00000501893.1:p.Asn1027Asp | |
| ENST00000675458.1:c.3172A>G | ENSP00000501754.1:n.3172A>G | |
| ENST00000675507.1:n.4875A>G | ||
| ENST00000675535.1:c.*706A>G | ENSP00000501667.1:n.*706A>G | |
| ENST00000675566.1:n.4937A>G | ||
| ENST00000675602.1:n.6127A>G | ||
| ENST00000675647.1:n.4243A>G | ||
| ENST00000675711.1:c.3079A>G | ENSP00000502485.1:p.Asn1027Asp | |
| ENST00000675727.1:c.3079A>G | ENSP00000501722.1:p.Asn1027Asp | |
| ENST00000675748.1:n.4713A>G | ||
| ENST00000675765.1:c.*462A>G | ENSP00000502640.1:n.*462A>G | |
| ENST00000675825.1:c.3079A>G | ENSP00000502632.1:p.Asn1027Asp | |
| ENST00000675877.1:n.3384A>G | ||
| ENST00000675893.1:c.*4148A>G | ENSP00000502001.1:n.*4148A>G | |
| ENST00000675943.1:n.6694A>G | ||
| ENST00000675979.1:c.*2322A>G | ENSP00000502208.1:n.*2322A>G | |
| ENST00000676044.1:c.*739A>G | ENSP00000502378.1:n.*739A>G | |
| ENST00000676086.1:n.4864A>G | ||
| ENST00000676121.1:n.4907A>G | ||
| ENST00000676237.1:c.2980A>G | ENSP00000501828.1:p.Asn994Asp | |
| ENST00000676416.1:c.2737A>G | ENSP00000501660.1:p.Asn913Asp | |
| ENST00000676424.1:n.4875A>G | ||
| ENST00000676429.1:n.7548A>G | ||
| ENST00000374647.9:c.3079A>G | ENSP00000363779.5:p.Asn1027Asp | |
| ENST00000495759.5:c.219A>G | ||
| ENST00000537196.1:c.2032A>G | ENSP00000439367.1:p.Asn678Asp | |
| NM_003640.3:c.3079A>G , LRG_251t1:c.3079A>G | NP_003631.2:p.Asn1027Asp | |
| XM_005252285.2:c.2737A>G | XP_005252342.1:p.Asn913Asp | |
| XM_011519136.1:c.3079A>G | XP_011517438.1:p.Asn1027Asp | |
| XM_011519137.1:c.2737A>G | XP_011517439.1:p.Asn913Asp | |
| NM_001318360.1:c.2737A>G | NP_001305289.1:p.Asn913Asp | |
| NM_001330749.1:c.2032A>G | NP_001317678.1:p.Asn678Asp | |
| NM_003640.4:c.3079A>G | NP_003631.2:p.Asn1027Asp | |
| XM_011519136.2:c.3079A>G | XP_011517438.1:p.Asn1027Asp | |
| XR_929859.3:n.3468A>G | ||
| NM_003640.5:c.3079A>G MANE Select | NP_003631.2:p.Asn1027Asp | |
| NM_001318360.2:c.2737A>G | NP_001305289.1:p.Asn913Asp | |
| NM_001330749.2:c.2032A>G | NP_001317678.1:p.Asn678Asp |