Revel Score:
ENST00000335508 (MANE Select)
0.619
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004038 (NFE)
Genomes Max Group AF
0.00003763 (NFE)
Exomes Max Group AF
0.00003823 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197402110T>C , CM000664.2:g.197402110T>C | GRCh38 |
| NC_000002.11:g.198266834T>C , CM000664.1:g.198266834T>C | GRCh37 |
| NC_000002.10:g.197975079T>C | NCBI36 |
| NG_032903.2:g.37938A>G , LRG_624:g.37938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.2098A>G MANE Select | ENSP00000335321.6:p.Lys700Glu | |
| ENST00000470268.2:n.3982A>G | ||
| ENST00000652026.1:c.*3165A>G | ENSP00000498652.1:n.*3165A>G | |
| ENST00000652738.1:c.*2357A>G | ENSP00000499119.1:n.*2357A>G | |
| ENST00000335508.10:c.2098A>G | ENSP00000335321.5:p.Lys700Glu | |
| ENST00000462613.1:n.53A>G | ||
| NM_012433.2:c.2098A>G | NP_036565.2:p.Lys700Glu | |
| NM_012433.3:c.2098A>G , LRG_624t2:c.2098A>G | NP_036565.2:p.Lys700Glu | |
| XM_011510867.1:c.1660A>G | XP_011509169.1:p.Lys554Glu | |
| XM_011510868.1:c.1660A>G | XP_011509170.1:p.Lys554Glu | |
| XR_241300.2:n.2190A>G | ||
| XR_001738680.2:n.2143A>G | ||
| NM_012433.4:c.2098A>G MANE Select | NP_036565.2:p.Lys700Glu |