Revel Score:
ENST00000316623 (MANE Select)
0.489
ENST00000389087
0.489
ENST00000544030
0.489
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452666T>C , CM000677.2:g.48452666T>C | GRCh38 |
| NC_000015.9:g.48744863T>C , CM000677.1:g.48744863T>C | GRCh37 |
| NC_000015.8:g.46532155T>C | NCBI36 |
| NG_008805.2:g.198123A>G , LRG_778:g.198123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5441A>G | ENSP00000453958.2:p.Asn1814Ser | |
| ENST00000674301.2:c.5441A>G | ENSP00000501333.2:p.Asn1814Ser | |
| ENST00000684448.1:n.4115A>G | ||
| ENST00000316623.10:c.5441A>G MANE Select | ENSP00000325527.5:p.Asn1814Ser | |
| ENST00000674301.1:c.440A>G | ENSP00000501333.1:p.Asn147Ser | |
| ENST00000316623.9:c.5441A>G | ENSP00000325527.5:p.Asn1814Ser | |
| ENST00000537463.6:c.*1204A>G | ENSP00000440294.2:n.*1204A>G | |
| ENST00000559133.5:c.748A>G | ||
| NM_000138.4:c.5441A>G , LRG_778t1:c.5441A>G | NP_000129.3:p.Asn1814Ser | |
| NM_000138.5:c.5441A>G MANE Select | NP_000129.3:p.Asn1814Ser |