Linked Data
ClinVar Variation Id:
441248
dbSNP Id:
rs1014317450
gnomAD v2:
17-76993194-T-A
gnomAD v4:
17-78997112-T-A
PubMed:
PMID:28742282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78997112T>A , CM000679.2:g.78997112T>A | GRCh38 |
| NC_000017.10:g.76993194T>A , CM000679.1:g.76993194T>A | GRCh37 |
| NC_000017.9:g.74504789T>A | NCBI36 |
| NG_016645.1:g.17706A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392446.10:c.511A>T MANE Select | ENSP00000376241.4:p.Ile171Phe | |
| ENST00000302345.6:c.511A>T | ENSP00000307674.2:p.Ile171Phe | |
| ENST00000392446.9:c.511A>T | ENSP00000376241.4:p.Ile171Phe | |
| ENST00000588611.5:c.350A>T | ENSP00000465816.1:p.Asp117Val | |
| ENST00000591773.5:c.511A>T | ENSP00000467437.1:p.Ile171Phe | |
| ENST00000592228.1:c.511A>T | ENSP00000466743.1:p.Ile171Phe | |
| ENST00000620915.4:c.511A>T | ENSP00000477798.1:p.Ile171Phe | |
| NM_001159772.1:c.511A>T | NP_001153244.1:p.Ile171Phe | |
| NM_001159773.1:c.511A>T | NP_001153245.1:p.Ile171Phe | |
| NM_138793.3:c.511A>T | NP_620148.1:p.Ile171Phe | |
| XM_005257020.1:c.511A>T | XP_005257077.1:p.Ile171Phe | |
| XM_005257021.1:c.511A>T | XP_005257078.1:p.Ile171Phe | |
| XM_005257022.1:c.511A>T | XP_005257079.1:p.Ile171Phe | |
| XM_006721683.1:c.511A>T | XP_006721746.1:p.Ile171Phe | |
| XM_011524291.1:c.511A>T | XP_011522593.1:p.Ile171Phe | |
| XM_011524292.1:c.511A>T | XP_011522594.1:p.Ile171Phe | |
| XM_011524293.1:c.511A>T | XP_011522595.1:p.Ile171Phe | |
| XM_011524294.1:c.511A>T | XP_011522596.1:p.Ile171Phe | |
| XM_011524295.1:c.511A>T | XP_011522597.1:p.Ile171Phe | |
| XM_011524294.2:c.511A>T | XP_011522596.1:p.Ile171Phe | |
| XM_011524295.2:c.511A>T | XP_011522597.1:p.Ile171Phe | |
| XM_024450564.1:c.511A>T | XP_024306332.1:p.Ile171Phe | |
| XR_001752424.2:n.955A>T | ||
| NM_001159773.2:c.511A>T MANE Select | NP_001153245.1:p.Ile171Phe | |
| NM_001159772.2:c.511A>T | NP_001153244.1:p.Ile171Phe | |
| NM_138793.4:c.511A>T | NP_620148.1:p.Ile171Phe |