ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00219574 (NFE)
Genomes Max Group AF
0.00217821 (NFE)
Exomes Max Group AF
0.00218089 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612847C>A , CM000663.2:g.158612847C>A | GRCh38 |
| NC_000001.10:g.158582637C>A , CM000663.1:g.158582637C>A | GRCh37 |
| NC_000001.9:g.156849261C>A | NCBI36 |
| NG_011474.1:g.78870G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.7104G>T MANE Select | ENSP00000495214.1:p.Lys2368Asn | |
| ENST00000368147.8:c.7104G>T | ENSP00000357129.4:p.Lys2368Asn | |
| ENST00000481212.5:n.545G>T | ||
| ENST00000498708.1:n.536G>T | ||
| ENST00000614909.4:c.7104G>T | ENSP00000482595.1:p.Lys2368Asn | |
| NM_003126.2:c.7104G>T | NP_003117.2:p.Lys2368Asn | |
| XM_011509916.1:c.7104G>T | XP_011508218.1:p.Lys2368Asn | |
| XM_011509917.1:c.7086G>T | XP_011508219.1:p.Lys2362Asn | |
| NM_003126.3:c.7104G>T | NP_003117.2:p.Lys2368Asn | |
| XM_011509916.2:c.7104G>T | XP_011508218.1:p.Lys2368Asn | |
| XM_011509917.3:c.7086G>T | XP_011508219.1:p.Lys2362Asn | |
| NM_003126.4:c.7104G>T MANE Select | NP_003117.2:p.Lys2368Asn |