Revel Score:
ENST00000399402
0.887
ENST00000307363 (MANE Select)
0.887
ENST00000445488
0.887
ENST00000307377
0.887
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012998 (NFE)
Genomes Max Group AF
0.00006803 (NFE)
Exomes Max Group AF
0.00013065 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014057T>C , CM000665.2:g.33014057T>C | GRCh38 |
| NC_000003.11:g.33055549T>C , CM000665.1:g.33055549T>C | GRCh37 |
| NC_000003.10:g.33030553T>C | NCBI36 |
| NG_009005.1:g.88146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1733A>G MANE Select | ENSP00000306920.4:p.Lys578Arg | |
| ENST00000307363.9:c.1733A>G | ENSP00000306920.4:p.Lys578Arg | |
| ENST00000307377.12:c.1340A>G | ENSP00000305920.8:p.Lys447Arg | |
| ENST00000399402.7:c.1643A>G | ENSP00000382333.2:p.Lys548Arg | |
| NM_000404.2:c.1733A>G | NP_000395.2:p.Lys578Arg | |
| NM_000404.3:c.1733A>G | NP_000395.2:p.Lys578Arg | |
| NM_001079811.1:c.1643A>G | NP_001073279.1:p.Lys548Arg | |
| NM_001079811.2:c.1643A>G | NP_001073279.1:p.Lys548Arg | |
| NM_001135602.1:c.1340A>G | NP_001129074.1:p.Lys447Arg | |
| NM_001135602.2:c.1340A>G | NP_001129074.1:p.Lys447Arg | |
| NM_001317040.1:c.1877A>G | NP_001303969.1:p.Lys626Arg | |
| NM_000404.4:c.1733A>G MANE Select | NP_000395.3:p.Lys578Arg | |
| NM_001079811.3:c.1643A>G | NP_001073279.2:p.Lys548Arg | |
| NM_001135602.3:c.1340A>G | NP_001129074.2:p.Lys447Arg | |
| NM_001317040.2:c.1877A>G | NP_001303969.2:p.Lys626Arg | |
| NM_001393580.1:c.1733A>G | NP_001380509.1:p.Lys578Arg |