Revel Score:
ENST00000290209
0.325
ENST00000397707
0.325
ENST00000354181 (MANE Select)
0.325
ENST00000397702
0.325
ENST00000458406
0.325
ENST00000451844
0.325
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00275171 (AMR)
Genomes Max Group AF
0.00030678 (AMR)
Exomes Max Group AF
0.0035044 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34250346T>C , CM000677.2:g.34250346T>C | GRCh38 |
| NC_000015.9:g.34542547T>C , CM000677.1:g.34542547T>C | GRCh37 |
| NC_000015.8:g.32329839T>C | NCBI36 |
| NG_007951.1:g.92719A>G , LRG_270:g.92719A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.1601A>G MANE Select | ENSP00000346112.3:p.Asn534Ser | |
| ENST00000675289.1:n.2383A>G | ||
| ENST00000676379.1:c.1601A>G | ENSP00000502539.1:p.Asn534Ser | |
| ENST00000290209.9:c.1448A>G | ENSP00000290209.5:p.Asn483Ser | |
| ENST00000354181.7:c.1601A>G | ENSP00000346112.3:p.Asn534Ser | |
| ENST00000397702.6:c.1424A>G | ENSP00000380814.2:p.Asn475Ser | |
| ENST00000397707.6:c.1556A>G | ENSP00000380819.2:p.Asn519Ser | |
| ENST00000458406.6:c.1424A>G | ENSP00000387725.2:p.Asn475Ser | |
| ENST00000558589.5:c.1574A>G | ENSP00000452776.1:p.Asn525Ser | |
| ENST00000558667.5:c.1601A>G | ENSP00000453473.1:p.Asn534Ser | |
| ENST00000559523.5:c.1424A>G | ENSP00000452904.1:p.Asn475Ser | |
| ENST00000559664.5:c.1601A>G | ENSP00000453702.1:p.Asn534Ser | |
| ENST00000560164.5:c.1037A>G | ENSP00000452705.1:p.Asn346Ser | |
| ENST00000560611.5:c.1601A>G | ENSP00000454168.1:p.Asn534Ser | |
| ENST00000561080.5:c.1601A>G | ENSP00000454069.1:p.Asn534Ser | |
| NM_001042494.1:c.1424A>G | NP_001035959.1:p.Asn475Ser | |
| NM_001042495.1:c.1424A>G | NP_001035960.1:p.Asn475Ser | |
| NM_001042496.1:c.1574A>G | NP_001035961.1:p.Asn525Ser | |
| NM_001042497.1:c.1556A>G | NP_001035962.1:p.Asn519Ser | |
| NM_005135.2:c.1448A>G , LRG_270t1:c.1448A>G | NP_005126.1:p.Asn483Ser | |
| NM_133647.1:c.1601A>G , LRG_270t2:c.1601A>G | NP_598408.1:p.Asn534Ser | |
| XM_006720793.2:c.1454A>G | XP_006720856.1:p.Asn485Ser | |
| XM_011522267.1:c.1601A>G | XP_011520569.1:p.Asn534Ser | |
| XM_011522268.1:c.1601A>G | XP_011520570.1:p.Asn534Ser | |
| XM_011522269.1:c.1601A>G | XP_011520571.1:p.Asn534Ser | |
| XR_429476.2:n.1607A>G | ||
| XR_931960.1:n.1607A>G | ||
| XR_931961.1:n.1607A>G | ||
| NM_001365088.1:c.1601A>G MANE Select | NP_001352017.1:p.Asn534Ser | |
| XM_006720793.4:c.1454A>G | XP_006720856.1:p.Asn485Ser | |
| XM_011522269.3:c.1601A>G | XP_011520571.1:p.Asn534Ser | |
| XR_931960.3:n.2851A>G | ||
| NM_001042494.2:c.1424A>G | NP_001035959.1:p.Asn475Ser | |
| NM_001042495.2:c.1424A>G | NP_001035960.1:p.Asn475Ser | |
| NM_001042496.2:c.1574A>G | NP_001035961.1:p.Asn525Ser | |
| NM_001042497.2:c.1556A>G | NP_001035962.1:p.Asn519Ser | |
| NM_133647.2:c.1601A>G | NP_598408.1:p.Asn534Ser |