Revel Score:
ENST00000261772 (MANE Select)
0.303
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002907 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002828 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70259003T>C , CM000678.2:g.70259003T>C | GRCh38 |
| NC_000016.9:g.70292906T>C , CM000678.1:g.70292906T>C | GRCh37 |
| NC_000016.8:g.68850407T>C | NCBI36 |
| NG_023191.1:g.35507A>G , LRG_359:g.35507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1969A>G MANE Select | ENSP00000261772.8:p.Asn657Asp | |
| ENST00000564359.6:n.2127A>G | ||
| ENST00000565361.3:c.1969A>G | ENSP00000455360.3:p.Asn657Asp | |
| ENST00000674512.1:c.1948A>G | ENSP00000501613.1:p.Asn650Asp | |
| ENST00000674652.1:c.*996A>G | ENSP00000502620.1:n.*996A>G | |
| ENST00000674691.1:c.1969A>G | ENSP00000502247.1:p.Asn657Asp | |
| ENST00000674768.1:c.*224A>G | ENSP00000501679.1:n.*224A>G | |
| ENST00000674811.1:c.*162A>G | ENSP00000502055.1:n.*162A>G | |
| ENST00000674848.1:n.2018A>G | ||
| ENST00000674962.1:n.2127A>G | ||
| ENST00000674963.1:c.1969A>G | ENSP00000501924.1:p.Asn657Asp | |
| ENST00000675035.1:c.1969A>G | ENSP00000502712.1:p.Asn657Asp | |
| ENST00000675045.1:c.1969A>G | ENSP00000502014.1:p.Asn657Asp | |
| ENST00000675120.1:c.*279A>G | ENSP00000502823.1:n.*279A>G | |
| ENST00000675133.1:c.1942A>G | ENSP00000502230.1:p.Asn648Asp | |
| ENST00000675270.1:n.2104A>G | ||
| ENST00000675297.1:c.*321A>G | ENSP00000502753.1:n.*321A>G | |
| ENST00000675371.1:c.1969A>G | ENSP00000502645.1:p.Asn657Asp | |
| ENST00000675403.1:n.2127A>G | ||
| ENST00000675569.1:c.*1203A>G | ENSP00000502534.1:n.*1203A>G | |
| ENST00000675643.1:c.1969A>G | ENSP00000502797.1:p.Asn657Asp | |
| ENST00000675691.1:c.1840A>G | ENSP00000502196.1:p.Asn614Asp | |
| ENST00000675751.1:c.*996A>G | ENSP00000502277.1:n.*996A>G | |
| ENST00000675853.1:c.1969A>G | ENSP00000502367.1:p.Asn657Asp | |
| ENST00000675917.1:n.2266A>G | ||
| ENST00000675953.1:c.1885A>G | ENSP00000502321.1:p.Asn629Asp | |
| ENST00000675986.1:n.2127A>G | ||
| ENST00000676004.1:c.*1968A>G | ENSP00000502765.1:n.*1968A>G | |
| ENST00000676040.1:c.*1203A>G | ENSP00000502108.1:n.*1203A>G | |
| ENST00000676168.1:c.1969A>G | ENSP00000502479.1:p.Asn657Asp | |
| ENST00000676209.1:c.*321A>G | ENSP00000502052.1:n.*321A>G | |
| ENST00000676211.1:c.*996A>G | ENSP00000502726.1:n.*996A>G | |
| ENST00000676212.1:c.1969A>G | ENSP00000501853.1:p.Asn657Asp | |
| ENST00000676247.1:c.*321A>G | ENSP00000502699.1:n.*321A>G | |
| ENST00000261772.12:c.1969A>G | ENSP00000261772.7:p.Asn657Asp | |
| ENST00000564359.5:n.465A>G | ||
| ENST00000565361.2:c.314A>G | ||
| NM_001605.2:c.1969A>G , LRG_359t1:c.1969A>G | NP_001596.2:p.Asn657Asp | |
| XR_933220.1:n.2120A>G | ||
| XR_933220.3:n.2079A>G | ||
| NM_001605.3:c.1969A>G MANE Select | NP_001596.2:p.Asn657Asp |