Linked Data
dbSNP Id:
rs146312634
gnomAD v2:
7-92146895-T-A
gnomAD v3:
7-92517581-T-A
gnomAD v4:
7-92517581-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517581T>A , CM000669.2:g.92517581T>A | GRCh38 |
| NC_000007.13:g.92146895T>A , CM000669.1:g.92146895T>A | GRCh37 |
| NC_000007.12:g.91984831T>A | NCBI36 |
| NG_008341.1:g.15951A>T | |
| NG_008341.2:g.15951A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.934A>T MANE Select | ENSP00000248633.4:p.Ile312Phe | |
| ENST00000248633.8:c.934A>T | ENSP00000248633.4:p.Ile312Phe | |
| ENST00000428214.5:c.934A>T | ENSP00000394413.1:p.Ile312Phe | |
| ENST00000438045.5:c.274-3614A>T | ENSP00000410438.1:n.274-3614A>T | |
| ENST00000484913.5:n.973A>T | ||
| NM_000466.2:c.934A>T | NP_000457.1:p.Ile312Phe | |
| NM_001282677.1:c.934A>T | NP_001269606.1:p.Ile312Phe | |
| NM_001282678.1:c.310A>T | NP_001269607.1:p.Ile104Phe | |
| XR_242246.3:n.1030A>T | ||
| XM_017012319.2:c.-733A>T | XP_016867808.1:n.-733A>T | |
| XR_001744808.2:n.44A>T | ||
| XR_242246.5:n.981A>T | ||
| NM_000466.3:c.934A>T MANE Select | NP_000457.1:p.Ile312Phe | |
| NM_001282677.2:c.934A>T | NP_001269606.1:p.Ile312Phe | |
| NM_001282678.2:c.310A>T | NP_001269607.1:p.Ile104Phe |