Revel Score:
ENST00000265715
0.965
ENST00000544569
0.965
ENST00000543100
0.965
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015974 (NFE)
Genomes Max Group AF
0.00009047 (NFE)
Exomes Max Group AF
0.00016046 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107694473T>G , CM000669.2:g.107694473T>G | GRCh38 |
| NC_000007.13:g.107334918T>G , CM000669.1:g.107334918T>G | GRCh37 |
| NC_000007.12:g.107122154T>G | NCBI36 |
| NG_008489.1:g.38839T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1334T>G MANE Select | ENSP00000494017.1:p.Leu445Trp | |
| ENST00000644846.1:c.45T>G | ||
| ENST00000265715.7:c.1334T>G | ENSP00000265715.3:p.Leu445Trp | |
| ENST00000460748.1:n.437T>G | ||
| ENST00000477350.5:n.189-148T>G | ||
| ENST00000480841.5:n.183T>G | ||
| ENST00000497446.5:n.349T>G | ||
| NM_000441.1:c.1334T>G | NP_000432.1:p.Leu445Trp | |
| XM_005250425.1:c.1334T>G | XP_005250482.1:p.Leu445Trp | |
| XM_005250425.2:c.1334T>G | XP_005250482.1:p.Leu445Trp | |
| XM_017012318.1:c.1264-148T>G | XP_016867807.1:n.1264-148T>G | |
| NM_000441.2:c.1334T>G MANE Select | NP_000432.1:p.Leu445Trp |