Revel Score:
ENST00000225964 (MANE Select)
0.487
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033234 (NFE)
Genomes Max Group AF
0.00012412 (NFE)
Exomes Max Group AF
0.0003409 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188780C>G , CM000679.2:g.50188780C>G | GRCh38 |
| NC_000017.10:g.48266141C>G , CM000679.1:g.48266141C>G | GRCh37 |
| NC_000017.9:g.45621140C>G | NCBI36 |
| NG_007400.1:g.17860G>C , LRG_1:g.17860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3061G>C MANE Select | ENSP00000225964.6:p.Glu1021Gln | |
| ENST00000225964.9:c.3061G>C | ENSP00000225964.5:p.Glu1021Gln | |
| ENST00000511732.1:n.5G>C | ||
| NM_000088.3:c.3061G>C , LRG_1t1:c.3061G>C | NP_000079.2:p.Glu1021Gln | |
| XM_005257058.3:c.2791G>C | XP_005257115.2:p.Glu931Gln | |
| XM_005257059.3:c.2143G>C | XP_005257116.2:p.Glu715Gln | |
| XM_011524341.1:c.2863G>C | XP_011522643.1:p.Glu955Gln | |
| XM_005257058.4:c.2791G>C | XP_005257115.2:p.Glu931Gln | |
| XM_005257059.4:c.2143G>C | XP_005257116.2:p.Glu715Gln | |
| NM_000088.4:c.3061G>C MANE Select | NP_000079.2:p.Glu1021Gln |