ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421659T>C , CM000677.2:g.48421659T>C | GRCh38 |
| NC_000015.9:g.48713856T>C , CM000677.1:g.48713856T>C | GRCh37 |
| NC_000015.8:g.46501148T>C | NCBI36 |
| NG_008805.2:g.229130A>G , LRG_778:g.229130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*406A>G | ENSP00000453958.2:n.*406A>G | |
| ENST00000674301.2:c.*1111A>G | ENSP00000501333.2:n.*1111A>G | |
| ENST00000682170.1:n.1779A>G | ||
| ENST00000682767.1:n.895A>G | ||
| ENST00000316623.10:c.7598A>G MANE Select | ENSP00000325527.5:p.Asn2533Ser | |
| ENST00000674301.1:c.2764A>G | ENSP00000501333.1:n.2764A>G | |
| ENST00000316623.9:c.7598A>G | ENSP00000325527.5:p.Asn2533Ser | |
| ENST00000559133.5:c.2967A>G | ||
| NM_000138.4:c.7598A>G , LRG_778t1:c.7598A>G | NP_000129.3:p.Asn2533Ser | |
| NM_000138.5:c.7598A>G MANE Select | NP_000129.3:p.Asn2533Ser |