Revel Score:
ENST00000412523
0.008
ENST00000331733 (MANE Select)
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28023348 (SAS)
Genomes Max Group AF
0.27680876 (NFE)
Exomes Max Group AF
0.2808633 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44904920A>G , CM000679.2:g.44904920A>G | GRCh38 |
| NC_000017.10:g.42982288A>G , CM000679.1:g.42982288A>G | GRCh37 |
| NC_000017.9:g.40337814A>G | NCBI36 |
| NG_008401.1:g.15627T>C | |
| NG_032792.1:g.10209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331733.5:c.1091A>G (FAM187A) MANE Select | ENSP00000329499.4:p.His364Arg | |
| ENST00000417826.3:c.*2103A>G (CCDC103) MANE Select | ENSP00000391692.2:n.*2103A>G | |
| ENST00000441312.2:n.340T>C (GFAP) | ||
| ENST00000588735.3:c.*2427T>C (GFAP) MANE Select | ENSP00000466598.2:n.*2427T>C | |
| ENST00000592065.2:n.855T>C (GFAP) | ||
| ENST00000638304.1:c.406T>C (GFAP) | ||
| ENST00000638400.1:c.322T>C (GFAP) | ||
| ENST00000638488.1:n.951T>C (GFAP) | ||
| ENST00000639042.1:c.809T>C (GFAP) | ||
| ENST00000639243.1:c.243T>C (GFAP) | ||
| ENST00000639277.1:c.1258-366T>C (GFAP) | ENSP00000492432.1:n.1258-366T>C | |
| ENST00000639369.1:c.337T>C (GFAP) | ||
| ENST00000640545.1:c.64-366T>C (GFAP) | ENSP00000491735.1:n.64-366T>C | |
| ENST00000640859.1:c.301T>C (GFAP) | ||
| ENST00000331733.4:c.1091A>G (FAM187A) | ENSP00000329499.4:p.His364Arg | |
| ENST00000417826.2:c.*2103A>G (CCDC103) | ENSP00000391692.2:n.*2103A>G | |
| NM_001258400.1:c.1091A>G (FAM187A) | NP_001245329.1:p.His364Arg | |
| NM_002055.5:c.*2427T>C (GFAP) MANE Select | NP_002046.1:n.*2427T>C | |
| NM_001258395.2:c.*2103A>G (CCDC103) | NP_001245324.1:n.*2103A>G | |
| NM_001258396.2:c.*2103A>G (CCDC103) | NP_001245325.1:n.*2103A>G | |
| NM_001258399.2:c.*2521A>G (CCDC103) | NP_001245328.1:n.*2521A>G | |
| NM_213607.3:c.*2103A>G (CCDC103) MANE Select | NP_998772.1:n.*2103A>G | |
| NM_001258397.3:c.*2582A>G (CCDC103) | NP_001245326.1:n.*2582A>G | |
| NM_001258398.3:c.*2521A>G (CCDC103) | NP_001245327.1:n.*2521A>G | |
| NM_001258400.2:c.1091A>G (FAM187A) MANE Select | NP_001245329.1:p.His364Arg |