Revel Score:
ENST00000348295
0.088
ENST00000382578
0.088
ENST00000382565
0.088
ENST00000382563
0.088
ENST00000544772
0.088
ENST00000328354
0.088
ENST00000404276 (MANE Select)
0.088
ENST00000405598
0.088
ENST00000382580
0.088
ENST00000403642
0.088
ENST00000402731
0.088
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010226 (NFE)
Genomes Max Group AF
0.00015881 (NFE)
Exomes Max Group AF
0.00009484 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689152G>A , CM000684.2:g.28689152G>A | GRCh38 |
| NC_000022.10:g.29085140G>A , CM000684.1:g.29085140G>A | GRCh37 |
| NC_000022.9:g.27415140G>A | NCBI36 |
| NG_008150.1:g.57683C>T | |
| NG_008150.2:g.57715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*260C>T | ENSP00000518557.1:n.*260C>T | |
| ENST00000402731.6:c.1324C>T | ENSP00000384835.2:p.Pro442Ser | |
| ENST00000404276.6:c.1525C>T MANE Select | ENSP00000385747.1:p.Pro509Ser | |
| ENST00000425190.7:c.862C>T | ENSP00000390244.2:p.Pro288Ser | |
| ENST00000464581.6:c.865C>T | ENSP00000483777.2:p.Pro289Ser | |
| ENST00000648295.1:n.1077C>T | ||
| ENST00000649563.1:c.862C>T | ENSP00000496928.1:p.Pro288Ser | |
| ENST00000650281.1:c.1525C>T | ENSP00000497000.1:p.Pro509Ser | |
| ENST00000328354.10:c.1525C>T | ENSP00000329178.6:p.Pro509Ser | |
| ENST00000348295.7:c.1438C>T | ENSP00000329012.5:p.Pro480Ser | |
| ENST00000382580.6:c.1654C>T | ENSP00000372023.2:p.Pro552Ser | |
| ENST00000402731.5:c.1438C>T | ENSP00000384835.1:p.Pro480Ser | |
| ENST00000403642.5:c.1252C>T | ENSP00000384919.1:p.Pro418Ser | |
| ENST00000404276.5:c.1525C>T | ENSP00000385747.1:p.Pro509Ser | |
| ENST00000405598.5:c.1525C>T | ENSP00000386087.1:p.Pro509Ser | |
| ENST00000416671.5:c.*1015C>T | ENSP00000402225.1:n.*1015C>T | |
| ENST00000417588.5:c.1434C>T | ENSP00000412901.1:n.1434C>T | |
| ENST00000433728.5:c.1463C>T | ENSP00000404400.1:n.1463C>T | |
| ENST00000434810.5:c.723C>T | ||
| ENST00000448511.5:c.1415C>T | ENSP00000404567.1:n.1415C>T | |
| ENST00000456369.5:c.327C>T | ||
| ENST00000472807.1:n.259C>T | ||
| NM_001005735.1:c.1654C>T | NP_001005735.1:p.Pro552Ser | |
| NM_001257387.1:c.862C>T | NP_001244316.1:p.Pro288Ser | |
| NM_007194.3:c.1525C>T | NP_009125.1:p.Pro509Ser | |
| NM_145862.2:c.1438C>T | NP_665861.1:p.Pro480Ser | |
| XM_006724114.2:c.1045C>T | XP_006724177.1:p.Pro349Ser | |
| XM_006724116.2:c.982C>T | XP_006724179.2:p.Pro328Ser | |
| XM_011529839.1:c.1684C>T | XP_011528141.1:p.Pro562Ser | |
| XM_011529840.1:c.1597C>T | XP_011528142.1:p.Pro533Ser | |
| XM_011529841.1:c.1453C>T | XP_011528143.1:p.Pro485Ser | |
| XM_011529842.1:c.1354C>T | XP_011528144.1:p.Pro452Ser | |
| XM_011529843.1:c.1324C>T | XP_011528145.1:p.Pro442Ser | |
| XM_011529845.1:c.862C>T | XP_011528147.1:p.Pro288Ser | |
| XR_937805.1:n.1684C>T | ||
| NM_001349956.1:c.1324C>T | NP_001336885.1:p.Pro442Ser | |
| NM_007194.4:c.1525C>T MANE Select | NP_009125.1:p.Pro509Ser | |
| XM_006724114.3:c.1078C>T | XP_006724177.2:p.Pro360Ser | |
| XM_011529839.2:c.1684C>T | XP_011528141.1:p.Pro562Ser | |
| XM_011529840.3:c.1597C>T | XP_011528142.1:p.Pro533Ser | |
| XM_011529842.2:c.1354C>T | XP_011528144.1:p.Pro452Ser | |
| XM_011529845.2:c.862C>T | XP_011528147.1:p.Pro288Ser | |
| XM_017028560.1:c.1648C>T | XP_016884049.1:p.Pro550Ser | |
| XM_017028561.2:c.862C>T | XP_016884050.1:p.Pro288Ser | |
| XM_024452148.1:c.1555C>T | XP_024307916.1:p.Pro519Ser | |
| XM_024452149.1:c.1468C>T | XP_024307917.1:p.Pro490Ser | |
| XR_937805.2:n.1695C>T | ||
| NM_001005735.2:c.1654C>T | NP_001005735.1:p.Pro552Ser | |
| NM_001257387.2:c.862C>T | NP_001244316.1:p.Pro288Ser | |
| NM_001349956.2:c.1324C>T | NP_001336885.1:p.Pro442Ser |