Revel Score:
ENST00000318024 (MANE Plus Clinical)
0.068
ENST00000527720
0.068
ENST00000527020
0.068
ENST00000005226 (MANE Select)
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17498195C>A , CM000673.2:g.17498195C>A | GRCh38 |
| NC_000011.9:g.17519742C>A , CM000673.1:g.17519742C>A | GRCh37 |
| NC_000011.8:g.17476318C>A | NCBI36 |
| NG_011883.1:g.51222G>T | |
| NG_011883.2:g.51222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2457G>T MANE Select | ENSP00000005226.7:p.Glu819Asp | |
| ENST00000318024.9:c.1557G>T MANE Plus Clinical | ENSP00000317018.4:p.Glu519Asp | |
| ENST00000005226.11:c.2457G>T | ENSP00000005226.7:p.Glu819Asp | |
| ENST00000318024.8:c.1557G>T | ENSP00000317018.4:p.Glu519Asp | |
| ENST00000526313.5:c.*271G>T | ENSP00000432236.1:n.*271G>T | |
| ENST00000527020.5:c.1500G>T | ENSP00000436934.1:p.Glu500Asp | |
| ENST00000527720.5:c.1464G>T | ENSP00000432944.1:p.Glu488Asp | |
| ENST00000529563.5:n.441G>T | ||
| NM_001297764.1:c.1500G>T | NP_001284693.1:p.Glu500Asp | |
| NM_005709.3:c.1557G>T | NP_005700.2:p.Glu519Asp | |
| NM_153676.3:c.2457G>T | NP_710142.1:p.Glu819Asp | |
| NR_123738.1:n.1592G>T | ||
| XM_011519831.1:c.2481G>T | XP_011518133.1:p.Glu827Asp | |
| XM_011519832.1:c.1710G>T | XP_011518134.1:p.Glu570Asp | |
| XM_011519832.3:c.1710G>T | XP_011518134.1:p.Glu570Asp | |
| XM_017017075.1:c.2457G>T | XP_016872564.1:p.Glu819Asp | |
| XR_001747717.2:n.1716G>T | ||
| NM_153676.4:c.2457G>T MANE Select | NP_710142.1:p.Glu819Asp | |
| NM_001297764.2:c.1500G>T | NP_001284693.1:p.Glu500Asp | |
| NM_005709.4:c.1557G>T MANE Plus Clinical | NP_005700.2:p.Glu519Asp | |
| NR_123738.2:n.1592G>T |