Revel Score:
ENST00000401500 (MANE Select)
0.400
ENST00000270301
0.400
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000372 (SAS)
Exomes Max Group AF
0.00000394 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36083222G>A , CM000681.2:g.36083222G>A | GRCh38 |
| NC_000019.9:g.36574124G>A , CM000681.1:g.36574124G>A | GRCh37 |
| NC_000019.8:g.41265964G>A | NCBI36 |
| NG_028101.1:g.33342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.1531G>A | ENSP00000270301.6:p.Asp511Asn | |
| ENST00000401500.7:c.1531G>A MANE Select | ENSP00000384792.1:p.Asp511Asn | |
| ENST00000587391.6:c.*221G>A | ENSP00000465525.1:n.*221G>A | |
| ENST00000644764.2:c.*289+34G>A | ENSP00000494253.2:n.*289+34G>A | |
| ENST00000679682.1:c.1516G>A | ENSP00000506226.1:p.Asp506Asn | |
| ENST00000679714.1:c.1525G>A | ENSP00000506627.1:p.Asp509Asn | |
| ENST00000679757.1:c.1180G>A | ENSP00000505158.1:p.Asp394Asn | |
| ENST00000679858.1:c.*328G>A | ENSP00000505655.1:n.*328G>A | |
| ENST00000680359.1:c.1531G>A | ENSP00000506079.1:p.Asp511Asn | |
| ENST00000680403.1:c.1531G>A | ENSP00000505677.1:p.Asp511Asn | |
| ENST00000680489.1:n.1854G>A | ||
| ENST00000680564.1:c.1531G>A | ENSP00000505582.1:p.Asp511Asn | |
| ENST00000680590.1:c.1497+34G>A | ENSP00000505350.1:n.1497+34G>A | |
| ENST00000680806.1:c.*360G>A | ENSP00000506418.1:n.*360G>A | |
| ENST00000681625.1:c.1516G>A | ENSP00000505555.1:p.Asp506Asn | |
| ENST00000270301.11:c.1531G>A | ENSP00000270301.6:p.Asp511Asn | |
| ENST00000401500.6:c.1531G>A | ENSP00000384792.1:p.Asp511Asn | |
| ENST00000587391.5:c.*221G>A | ENSP00000465525.1:n.*221G>A | |
| NM_001083961.1:c.1531G>A | NP_001077430.1:p.Asp511Asn | |
| NM_173636.4:c.1531G>A | NP_775907.4:p.Asp511Asn | |
| XM_005258809.2:c.1531G>A | XP_005258866.1:p.Asp511Asn | |
| XM_011526837.1:c.1516G>A | XP_011525139.1:p.Asp506Asn | |
| XM_011526838.1:c.1531G>A | XP_011525140.1:p.Asp511Asn | |
| XM_011526839.1:c.1180G>A | XP_011525141.1:p.Asp394Asn | |
| XM_011526840.1:c.523G>A | XP_011525142.1:p.Asp175Asn | |
| XM_011526841.1:c.109G>A | XP_011525143.1:p.Asp37Asn | |
| XM_011526842.1:c.-20+34G>A | XP_011525144.1:n.-20+34G>A | |
| XM_011526840.2:c.523G>A | XP_011525142.1:p.Asp175Asn | |
| XM_011526841.2:c.109G>A | XP_011525143.1:p.Asp37Asn | |
| XM_017026665.1:c.1531G>A | XP_016882154.1:p.Asp511Asn | |
| XR_001753671.1:n.1622G>A | ||
| XR_001753672.1:n.1622G>A | ||
| NM_001083961.2:c.1531G>A MANE Select | NP_001077430.1:p.Asp511Asn | |
| NM_173636.5:c.1531G>A | NP_775907.4:p.Asp511Asn |