Revel Score:
ENST00000426016
0.577
ENST00000402219 (MANE Select)
0.577
ENST00000543698
0.577
ENST00000395038
0.577
ENST00000263879
0.577
ENST00000428721
0.577
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019907 (SAS)
Genomes Max Group AF
0.00016898 (SAS)
Exomes Max Group AF
0.00018207 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39035268G>A , CM000664.2:g.39035268G>A | GRCh38 |
| NC_000002.11:g.39262409G>A , CM000664.1:g.39262409G>A | GRCh37 |
| NC_000002.10:g.39115913G>A | NCBI36 |
| NG_007530.1:g.90196C>T , LRG_754:g.90196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.1045C>T | ||
| ENST00000472480.2:n.898C>T | ||
| ENST00000685782.1:n.1814-5C>T | ||
| ENST00000689668.1:n.1025C>T | ||
| ENST00000690679.1:c.1118C>T | ||
| ENST00000690876.1:c.907C>T | ENSP00000508955.1:p.Pro303Ser | |
| ENST00000691229.1:c.907C>T | ENSP00000510437.1:p.Pro303Ser | |
| ENST00000692089.1:c.907C>T | ENSP00000508626.1:p.Pro303Ser | |
| ENST00000402219.8:c.1018C>T MANE Select | ENSP00000384675.2:p.Pro340Ser | |
| ENST00000395038.6:c.1018C>T | ENSP00000378479.2:p.Pro340Ser | |
| ENST00000402219.6:c.1018C>T | ENSP00000384675.2:p.Pro340Ser | |
| ENST00000426016.5:c.1018C>T | ENSP00000387784.1:p.Pro340Ser | |
| ENST00000461545.1:n.368C>T | ||
| NM_005633.3:c.1018C>T , LRG_754t1:c.1018C>T | NP_005624.2:p.Pro340Ser | |
| XM_005264515.3:c.1018C>T | XP_005264572.1:p.Pro340Ser | |
| XM_011533060.1:c.1111C>T | XP_011531362.1:p.Pro371Ser | |
| XM_011533061.1:c.1111C>T | XP_011531363.1:p.Pro371Ser | |
| XM_011533062.1:c.997C>T | XP_011531364.1:p.Pro333Ser | |
| XM_011533063.1:c.994C>T | XP_011531365.1:p.Pro332Ser | |
| XM_011533064.1:c.847C>T | XP_011531366.1:p.Pro283Ser | |
| XM_011533065.1:c.1111C>T | XP_011531367.1:p.Pro371Ser | |
| XM_005264515.4:c.1018C>T | XP_005264572.1:p.Pro340Ser | |
| XM_011533062.2:c.997C>T | XP_011531364.1:p.Pro333Ser | |
| XM_011533064.2:c.847C>T | XP_011531366.1:p.Pro283Ser | |
| NM_001382394.1:c.997C>T | NP_001369323.1:p.Pro333Ser | |
| NM_001382395.1:c.1018C>T | NP_001369324.1:p.Pro340Ser | |
| NM_005633.4:c.1018C>T MANE Select | NP_005624.2:p.Pro340Ser |