Revel Score:
ENST00000452239
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003937 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00003804 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276277C>T , CM000666.2:g.186276277C>T | GRCh38 |
| NC_000004.11:g.187197431C>T , CM000666.1:g.187197431C>T | GRCh37 |
| NC_000004.10:g.187434425C>T | NCBI36 |
| NG_008051.1:g.15314C>T , LRG_583:g.15314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.642C>T MANE Select | ENSP00000384957.2:p.Asn214= | |
| ENST00000264692.8:c.480C>T | ENSP00000264692.5:p.Asn160= | |
| ENST00000403665.6:c.642C>T | ENSP00000384957.2:p.Asn214= | |
| ENST00000452239.1:c.89C>T | ||
| NM_000128.3:c.642C>T , LRG_583t1:c.642C>T | NP_000119.1:p.Asn214= | |
| XM_005262821.2:c.642C>T | XP_005262878.1:p.Asn214= | |
| XM_005262822.2:c.642C>T | XP_005262879.1:p.Asn214= | |
| XM_005262823.2:c.485+2002C>T | XP_005262880.1:n.485+2002C>T | |
| XM_005262824.1:c.642C>T | XP_005262881.1:p.Asn214= | |
| XM_006714137.1:c.642C>T | XP_006714200.1:p.Asn214= | |
| XR_938706.1:n.994C>T | ||
| XR_938707.1:n.994C>T | ||
| XM_005262821.4:c.642C>T | XP_005262878.1:p.Asn214= | |
| XM_005262822.4:c.642C>T | XP_005262879.1:p.Asn214= | |
| XM_005262823.4:c.485+2002C>T | XP_005262880.1:n.485+2002C>T | |
| XM_006714137.3:c.642C>T | XP_006714200.1:p.Asn214= | |
| XM_017007884.2:c.642C>T | XP_016863373.1:p.Asn214= | |
| XM_017007885.2:c.642C>T | XP_016863374.1:p.Asn214= | |
| XM_017007886.2:c.642C>T | XP_016863375.1:p.Asn214= | |
| XR_001741172.2:n.975C>T | ||
| NM_000128.4:c.642C>T MANE Select | NP_000119.1:p.Asn214= |