Revel Score:
ENST00000371823
0.051
ENST00000371821
0.051
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92155827 (NFE)
Genomes Max Group AF
0.91085707 (NFE)
Exomes Max Group AF
0.92188801 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.50200843C>T , CM000663.2:g.50200843C>T | GRCh38 |
| NC_000001.10:g.50666515C>T , CM000663.1:g.50666515C>T | GRCh37 |
| NC_000001.9:g.50439102C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371821.6:c.823C>T | ENSP00000360886.1:p.Pro275Ser | |
| ENST00000371824.7:c.774-8C>T MANE Select | ENSP00000360889.2:n.774-8C>T | |
| ENST00000448907.7:c.783-8C>T | ENSP00000399939.2:n.783-8C>T | |
| ENST00000650764.1:c.735-8C>T | ENSP00000498979.1:n.735-8C>T | |
| ENST00000651258.1:c.771-8C>T | ENSP00000498318.1:n.771-8C>T | |
| ENST00000651347.1:c.813-8C>T | ENSP00000498865.1:n.813-8C>T | |
| ENST00000652274.1:c.753-8C>T | ENSP00000498523.1:n.753-8C>T | |
| ENST00000357083.8:c.882-8C>T | ENSP00000349594.5:n.882-8C>T | |
| ENST00000371819.1:c.789-8C>T | ENSP00000360884.1:n.789-8C>T | |
| ENST00000371821.5:c.823C>T | ENSP00000360886.1:p.Pro275Ser | |
| ENST00000371823.8:c.808C>T | ENSP00000360888.4:p.Pro270Ser | |
| ENST00000371824.5:c.774-8C>T | ENSP00000360889.1:n.774-8C>T | |
| ENST00000371827.5:c.774-8C>T | ENSP00000360892.1:n.774-8C>T | |
| ENST00000448907.6:c.783-8C>T | ENSP00000399939.2:n.783-8C>T | |
| NM_001144774.2:c.774-8C>T | NP_001138246.1:n.774-8C>T | |
| NM_001144775.2:c.882-8C>T | NP_001138247.2:n.882-8C>T | |
| NM_001144776.2:c.774-8C>T | NP_001138248.1:n.774-8C>T | |
| NM_001144777.2:c.783-8C>T | NP_001138249.1:n.783-8C>T | |
| NM_001294348.1:c.789-8C>T | NP_001281277.1:n.789-8C>T | |
| NM_021952.4:c.808C>T | NP_068771.2:p.Pro270Ser | |
| XM_006710411.2:c.847C>T | XP_006710474.1:p.Pro283Ser | |
| XM_006710412.2:c.844C>T | XP_006710475.1:p.Pro282Ser | |
| XM_006710414.2:c.805C>T | XP_006710477.1:p.Pro269Ser | |
| XM_011540889.1:c.916C>T | XP_011539191.1:p.Pro306Ser | |
| XM_011540890.1:c.843-8C>T | XP_011539192.1:n.843-8C>T | |
| XM_011540891.1:c.823C>T | XP_011539193.1:p.Pro275Ser | |
| XM_011540892.1:c.817C>T | XP_011539194.1:p.Pro273Ser | |
| XM_011540893.1:c.808C>T | XP_011539195.1:p.Pro270Ser | |
| XM_011540894.1:c.805C>T | XP_011539196.1:p.Pro269Ser | |
| XM_011540895.1:c.805C>T | XP_011539197.1:p.Pro269Ser | |
| XM_011540896.1:c.787C>T | XP_011539198.1:p.Pro263Ser | |
| NM_001324208.1:c.817C>T | NP_001311137.1:p.Pro273Ser | |
| NM_001324209.1:c.732-8C>T | NP_001311138.1:n.732-8C>T | |
| NM_001324212.1:c.771-8C>T | NP_001311141.1:n.771-8C>T | |
| NM_001324213.1:c.823C>T | NP_001311142.1:p.Pro275Ser | |
| NM_001324214.1:c.771-8C>T | NP_001311143.1:n.771-8C>T | |
| NM_001324215.1:c.750-8C>T | NP_001311144.1:n.750-8C>T | |
| XM_006710411.3:c.847C>T | XP_006710474.1:p.Pro283Ser | |
| XM_011540889.3:c.916C>T | XP_011539191.1:p.Pro306Ser | |
| XM_011540890.2:c.843-8C>T | XP_011539192.1:n.843-8C>T | |
| XM_011540893.2:c.808C>T | XP_011539195.1:p.Pro270Ser | |
| XM_011540894.2:c.805C>T | XP_011539196.1:p.Pro269Ser | |
| XM_011540895.3:c.805C>T | XP_011539197.1:p.Pro269Ser | |
| XM_017000538.1:c.813-8C>T | XP_016856027.1:n.813-8C>T | |
| XM_017000539.1:c.753-8C>T | XP_016856028.1:n.753-8C>T | |
| XM_024453822.1:c.810-8C>T | XP_024309590.1:n.810-8C>T | |
| XM_024453825.1:c.771-8C>T | XP_024309593.1:n.771-8C>T | |
| XM_024453827.1:c.753-8C>T | XP_024309595.1:n.753-8C>T | |
| XM_024453829.1:c.735-8C>T | XP_024309597.1:n.735-8C>T | |
| NM_001144774.3:c.774-8C>T MANE Select | NP_001138246.1:n.774-8C>T | |
| NM_001144775.3:c.882-8C>T | NP_001138247.2:n.882-8C>T | |
| NM_001144776.3:c.774-8C>T | NP_001138248.1:n.774-8C>T | |
| NM_001144777.3:c.783-8C>T | NP_001138249.1:n.783-8C>T | |
| NM_001294348.2:c.789-8C>T | NP_001281277.1:n.789-8C>T | |
| NM_001324208.2:c.817C>T | NP_001311137.1:p.Pro273Ser | |
| NM_001324209.2:c.732-8C>T | NP_001311138.1:n.732-8C>T | |
| NM_001324212.2:c.771-8C>T | NP_001311141.1:n.771-8C>T | |
| NM_001324213.2:c.823C>T | NP_001311142.1:p.Pro275Ser | |
| NM_001324214.2:c.771-8C>T | NP_001311143.1:n.771-8C>T | |
| NM_001324215.2:c.750-8C>T | NP_001311144.1:n.750-8C>T | |
| NM_021952.5:c.808C>T | NP_068771.2:p.Pro270Ser |