Revel Score:
ENST00000370192 (MANE Select)
0.920
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00080092 (NFE)
Genomes Max Group AF
0.00054722 (NFE)
Exomes Max Group AF
0.00080763 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97515787A>C , CM000663.2:g.97515787A>C | GRCh38 |
| NC_000001.10:g.97981343A>C , CM000663.1:g.97981343A>C | GRCh37 |
| NC_000001.9:g.97753931A>C | NCBI36 |
| NG_008807.2:g.410273T>G , LRG_722:g.410273T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1679T>G MANE Select | ENSP00000359211.3:p.Ile560Ser | |
| ENST00000370192.7:c.1679T>G | ENSP00000359211.3:p.Ile560Ser | |
| NM_000110.3:c.1679T>G , LRG_722t1:c.1679T>G | NP_000101.2:p.Ile560Ser | |
| XM_005270562.3:c.1524+33773T>G | XP_005270619.2:n.1524+33773T>G | |
| XM_006710397.2:c.1679T>G | XP_006710460.1:p.Ile560Ser | |
| XM_006710397.3:c.1679T>G | XP_006710460.1:p.Ile560Ser | |
| XM_017000507.1:c.1568T>G | XP_016855996.1:p.Ile523Ser | |
| XM_017000508.2:c.1184T>G | XP_016855997.1:p.Ile395Ser | |
| XM_017000509.2:c.1184T>G | XP_016855998.1:p.Ile395Ser | |
| XM_017000510.1:c.1184T>G | XP_016855999.1:p.Ile395Ser | |
| NM_000110.4:c.1679T>G MANE Select | NP_000101.2:p.Ile560Ser |