Revel Score:
ENST00000438045
0.245
ENST00000248633 (MANE Select)
0.245
ENST00000541751
0.245
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00082854 (EAS)
Genomes Max Group AF
0.0000682 (EAS)
Exomes Max Group AF
0.00089199 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504761T>C , CM000669.2:g.92504761T>C | GRCh38 |
| NC_000007.13:g.92134075T>C , CM000669.1:g.92134075T>C | GRCh37 |
| NC_000007.12:g.91972011T>C | NCBI36 |
| NG_008341.1:g.28771A>G | |
| NG_008341.2:g.28771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2042A>G MANE Select | ENSP00000248633.4:p.Asp681Gly | |
| ENST00000248633.8:c.2042A>G | ENSP00000248633.4:p.Asp681Gly | |
| ENST00000428214.5:c.1900+1487A>G | ENSP00000394413.1:n.1900+1487A>G | |
| ENST00000438045.5:c.1076A>G | ENSP00000410438.1:p.Asp359Gly | |
| ENST00000484913.5:n.2081A>G | ||
| ENST00000496420.5:n.1718A>G | ||
| NM_000466.2:c.2042A>G | NP_000457.1:p.Asp681Gly | |
| NM_001282677.1:c.1900+1487A>G | NP_001269606.1:n.1900+1487A>G | |
| NM_001282678.1:c.1418A>G | NP_001269607.1:p.Asp473Gly | |
| XM_005250433.3:c.293A>G | XP_005250490.1:p.Asp98Gly | |
| XR_242246.3:n.2138A>G | ||
| XM_017012319.2:c.293A>G | XP_016867808.1:p.Asp98Gly | |
| XR_001744808.2:n.1069A>G | ||
| XR_242246.5:n.2089A>G | ||
| NM_000466.3:c.2042A>G MANE Select | NP_000457.1:p.Asp681Gly | |
| NM_001282677.2:c.1900+1487A>G | NP_001269606.1:n.1900+1487A>G | |
| NM_001282678.2:c.1418A>G | NP_001269607.1:p.Asp473Gly |