Revel Score:
ENST00000267415 (MANE Select)
0.574
ENST00000540705
0.574
ENST00000399423
0.574
ENST00000538777
0.574
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00602463 (SAS)
Genomes Max Group AF
0.00412175 (SAS)
Exomes Max Group AF
0.00604796 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240774G>A , CM000676.2:g.24240774G>A | GRCh38 |
| NC_000014.8:g.24709980G>A , CM000676.1:g.24709980G>A | GRCh37 |
| NC_000014.7:g.23779820G>A | NCBI36 |
| NG_016650.1:g.6901C>T | |
| NG_054634.1:g.13358G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1009C>T | ||
| ENST00000557921.3:c.598C>T | ENSP00000453157.3:p.Pro200Ser | |
| ENST00000699682.1:n.1096C>T | ||
| ENST00000699683.1:n.1146C>T | ||
| ENST00000699684.1:c.*299C>T | ENSP00000514523.1:n.*299C>T | |
| ENST00000699685.1:n.910C>T | ||
| ENST00000699686.1:c.499C>T | ENSP00000514524.1:p.Pro167Ser | |
| ENST00000699687.1:c.601C>T | ENSP00000514525.1:p.Pro201Ser | |
| ENST00000699688.1:n.906C>T | ||
| ENST00000699689.1:n.1262C>T | ||
| ENST00000699690.1:n.1459C>T | ||
| ENST00000699691.1:n.1603C>T | ||
| ENST00000699693.1:n.1123C>T | ||
| ENST00000699694.1:n.1365C>T | ||
| ENST00000699695.1:c.*78C>T | ENSP00000514526.1:n.*78C>T | |
| ENST00000699696.1:n.1009C>T | ||
| ENST00000699697.1:c.706C>T | ENSP00000514527.1:p.Pro236Ser | |
| ENST00000699698.1:n.627C>T | ||
| ENST00000699699.1:n.1030C>T | ||
| ENST00000699700.1:n.1153C>T | ||
| ENST00000699701.1:c.*86C>T | ENSP00000514528.1:n.*86C>T | |
| ENST00000267415.12:c.706C>T MANE Select | ENSP00000267415.7:p.Pro236Ser | |
| ENST00000557921.2:c.598C>T | ENSP00000453157.2:p.Pro200Ser | |
| ENST00000646753.1:c.601C>T | ENSP00000494065.1:p.Pro201Ser | |
| ENST00000267415.11:c.706C>T | ENSP00000267415.7:p.Pro236Ser | |
| ENST00000399423.8:c.706C>T | ENSP00000382350.4:p.Pro236Ser | |
| ENST00000558476.5:c.268C>T | ENSP00000452724.1:p.Pro90Ser | |
| ENST00000558566.1:c.*78C>T | ENSP00000453025.1:n.*78C>T | |
| ENST00000559019.1:c.*78C>T | ENSP00000453675.1:n.*78C>T | |
| ENST00000559549.1:n.432C>T | ||
| ENST00000559969.5:c.662C>T | ||
| ENST00000626689.2:c.*78C>T | ENSP00000486681.1:n.*78C>T | |
| NM_001099274.1:c.706C>T | NP_001092744.1:p.Pro236Ser | |
| NM_012461.2:c.706C>T | NP_036593.2:p.Pro236Ser | |
| XM_005267528.2:c.706C>T | XP_005267585.1:p.Pro236Ser | |
| XM_005267529.2:c.601C>T | XP_005267586.1:p.Pro201Ser | |
| NM_001099274.2:c.706C>T | NP_001092744.1:p.Pro236Ser | |
| NM_001363668.1:c.601C>T | NP_001350597.1:p.Pro201Ser | |
| NM_012461.3:c.706C>T | NP_036593.2:p.Pro236Ser | |
| XM_011536642.2:c.*86C>T | XP_011534944.1:n.*86C>T | |
| XM_017021216.2:c.64C>T | XP_016876705.1:p.Pro22Ser | |
| XM_017021217.1:c.64C>T | XP_016876706.1:p.Pro22Ser | |
| NM_001099274.3:c.706C>T MANE Select | NP_001092744.1:p.Pro236Ser | |
| NM_001363668.2:c.601C>T | NP_001350597.1:p.Pro201Ser |