Revel Score:
ENST00000399402
0.130
ENST00000307363 (MANE Select)
0.130
ENST00000445488
0.130
ENST00000307377
0.130
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99743479 (NFE)
Genomes Max Group AF
0.99235271 (NFE)
Exomes Max Group AF
0.99740822 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014229A>G , CM000665.2:g.33014229A>G | GRCh38 |
| NC_000003.11:g.33055721A>G , CM000665.1:g.33055721A>G | GRCh37 |
| NC_000003.10:g.33030725A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1561T>C MANE Select | ENSP00000306920.4:p.Cys521Arg | |
| ENST00000307363.9:c.1561T>C | ENSP00000306920.4:p.Cys521Arg | |
| ENST00000307377.12:c.1168T>C | ENSP00000305920.8:p.Cys390Arg | |
| ENST00000399402.7:c.1471T>C | ENSP00000382333.2:p.Cys491Arg | |
| ENST00000461475.5:n.660T>C | ||
| ENST00000497796.5:n.813T>C | ||
| NM_000404.4:c.1561T>C MANE Select | NP_000395.3:p.Cys521Arg | |
| NM_001079811.3:c.1471T>C | NP_001073279.2:p.Cys491Arg | |
| NM_001135602.3:c.1168T>C | NP_001129074.2:p.Cys390Arg | |
| NM_001317040.2:c.1705T>C | NP_001303969.2:p.Cys569Arg | |
| NM_001393580.1:c.1561T>C | NP_001380509.1:p.Cys521Arg |