Revel Score:
ENST00000294008 (MANE Select)
0.019
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00883537 (NFE)
Genomes Max Group AF
0.00754058 (NFE)
Exomes Max Group AF
0.00888421 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3582346T>C , CM000678.2:g.3582346T>C | GRCh38 |
| NC_000016.9:g.3632347T>C , CM000678.1:g.3632347T>C | GRCh37 |
| NC_000016.8:g.3572348T>C | NCBI36 |
| NG_028123.1:g.34239A>G , LRG_503:g.34239A>G | |
| NG_033123.1:g.46A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.5501A>G MANE Select | ENSP00000294008.3:p.Asn1834Ser | |
| ENST00000294008.3:c.5501A>G | ENSP00000294008.3:p.Asn1834Ser | |
| NM_032444.2:c.5501A>G , LRG_503t1:c.5501A>G | NP_115820.2:p.Asn1834Ser | |
| XM_011522715.1:c.5498A>G | XP_011521017.1:p.Asn1833Ser | |
| NM_032444.3:c.5501A>G | NP_115820.2:p.Asn1834Ser | |
| XM_011522715.3:c.5498A>G | XP_011521017.1:p.Asn1833Ser | |
| XM_017023775.2:c.4679A>G | XP_016879264.1:p.Asn1560Ser | |
| XM_024450471.1:c.5501A>G | XP_024306239.1:p.Asn1834Ser | |
| NM_032444.4:c.5501A>G MANE Select | NP_115820.2:p.Asn1834Ser |