Revel Score:
ENST00000395925 (MANE Select)
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00114633 (AFR)
Genomes Max Group AF
0.00108869 (AFR)
Exomes Max Group AF
0.00103225 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965244G>C , CM000669.2:g.41965244G>C | GRCh38 |
| NC_000007.13:g.42004842G>C , CM000669.1:g.42004842G>C | GRCh37 |
| NC_000007.12:g.41971367G>C | NCBI36 |
| NG_008434.1:g.276777C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3829C>G MANE Select | ENSP00000379258.3:p.Gln1277Glu | |
| ENST00000677288.1:c.3655C>G | ENSP00000503986.1:p.Gln1219Glu | |
| ENST00000677605.1:c.3829C>G | ENSP00000503743.1:p.Gln1277Glu | |
| ENST00000678429.1:c.3829C>G | ENSP00000502957.1:p.Gln1277Glu | |
| ENST00000395925.7:c.3829C>G | ENSP00000379258.3:p.Gln1277Glu | |
| ENST00000479210.1:n.3806C>G | ||
| NM_000168.5:c.3829C>G | NP_000159.3:p.Gln1277Glu | |
| XM_005249703.1:c.3829C>G | XP_005249760.1:p.Gln1277Glu | |
| XM_005249704.2:c.3829C>G | XP_005249761.1:p.Gln1277Glu | |
| XM_011515272.1:c.3829C>G | XP_011513574.1:p.Gln1277Glu | |
| XM_011515273.1:c.3829C>G | XP_011513575.1:p.Gln1277Glu | |
| XM_011515274.1:c.3652C>G | XP_011513576.1:p.Gln1218Glu | |
| XM_011515274.2:c.3652C>G | XP_011513576.1:p.Gln1218Glu | |
| XM_017011997.1:c.3826C>G | XP_016867486.1:p.Gln1276Glu | |
| NM_000168.6:c.3829C>G MANE Select | NP_000159.3:p.Gln1277Glu |