Revel Score:
ENST00000465636
0.298
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14928846 (NFE)
Genomes Max Group AF
0.1468392 (NFE)
Exomes Max Group AF
0.14930878 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113327793A>G , CM000665.2:g.113327793A>G | GRCh38 |
| NC_000003.11:g.113046640A>G , CM000665.1:g.113046640A>G | GRCh37 |
| NC_000003.10:g.114529330A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393845.9:c.4143T>C MANE Select | ENSP00000377428.2:p.Asp1381= | |
| ENST00000393845.6:c.4143T>C | ENSP00000377428.2:p.Asp1381= | |
| ENST00000461734.1:c.5T>C | ||
| ENST00000465636.5:c.1552T>C | ||
| NM_001164496.1:c.4143T>C | NP_001157968.1:p.Asp1381= | |
| XM_005247617.2:c.1848T>C | XP_005247674.1:p.Asp616= | |
| XM_006713696.1:c.4275T>C | XP_006713759.1:p.Asp1425= | |
| XM_006713697.1:c.4122T>C | XP_006713760.1:p.Asp1374= | |
| XM_011512975.1:c.4275T>C | XP_011511277.1:p.Asp1425= | |
| XM_011512976.1:c.4143T>C | XP_011511278.1:p.Asp1381= | |
| XM_011512977.1:c.3903T>C | XP_011511279.1:p.Asp1301= | |
| XM_011512978.1:c.3594T>C | XP_011511280.1:p.Asp1198= | |
| XM_011512979.1:c.3243T>C | XP_011511281.1:p.Asp1081= | |
| XR_427370.1:n.4800T>C | ||
| XR_427371.2:n.4800T>C | ||
| NM_001164496.2:c.4143T>C MANE Select | NP_001157968.1:p.Asp1381= |