ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012714 (AFR)
Genomes Max Group AF
0.00004737 (AFR)
Exomes Max Group AF
0.00017501 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517841A>T , CM000669.2:g.92517841A>T | GRCh38 |
| NC_000007.13:g.92147155A>T , CM000669.1:g.92147155A>T | GRCh37 |
| NC_000007.12:g.91985091A>T | NCBI36 |
| NG_008341.1:g.15691T>A | |
| NG_008341.2:g.15691T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.674T>A MANE Select | ENSP00000248633.4:p.Ile225Asn | |
| ENST00000248633.8:c.674T>A | ENSP00000248633.4:p.Ile225Asn | |
| ENST00000428214.5:c.674T>A | ENSP00000394413.1:p.Ile225Asn | |
| ENST00000438045.5:c.274-3874T>A | ENSP00000410438.1:n.274-3874T>A | |
| ENST00000484913.5:n.713T>A | ||
| NM_000466.2:c.674T>A | NP_000457.1:p.Ile225Asn | |
| NM_001282677.1:c.674T>A | NP_001269606.1:p.Ile225Asn | |
| NM_001282678.1:c.50T>A | NP_001269607.1:p.Ile17Asn | |
| XR_242246.3:n.770T>A | ||
| XR_242246.5:n.721T>A | ||
| NM_000466.3:c.674T>A MANE Select | NP_000457.1:p.Ile225Asn | |
| NM_001282677.2:c.674T>A | NP_001269606.1:p.Ile225Asn | |
| NM_001282678.2:c.50T>A | NP_001269607.1:p.Ile17Asn |