ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008756 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00009027 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487161T>C , CM000677.2:g.48487161T>C | GRCh38 |
| NC_000015.9:g.48779358T>C , CM000677.1:g.48779358T>C | GRCh37 |
| NC_000015.8:g.46566650T>C | NCBI36 |
| NG_008805.2:g.163628A>G , LRG_778:g.163628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3503A>G | ENSP00000453958.2:p.Asn1168Ser | |
| ENST00000674301.2:c.3503A>G | ENSP00000501333.2:p.Asn1168Ser | |
| ENST00000684448.1:n.2177A>G | ||
| ENST00000316623.10:c.3503A>G MANE Select | ENSP00000325527.5:p.Asn1168Ser | |
| ENST00000316623.9:c.3503A>G | ENSP00000325527.5:p.Asn1168Ser | |
| ENST00000537463.6:c.637-12511A>G | ENSP00000440294.2:n.637-12511A>G | |
| NM_000138.4:c.3503A>G , LRG_778t1:c.3503A>G | NP_000129.3:p.Asn1168Ser | |
| NM_000138.5:c.3503A>G MANE Select | NP_000129.3:p.Asn1168Ser |