Linked Data
ClinVar Variation Id:
337996
dbSNP Id:
rs376230028
ExAC:
20:25304049 T / A
gnomAD v2:
20-25304049-T-A
gnomAD v3:
20-25323413-T-A
gnomAD v4:
20-25323413-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25323413T>A , CM000682.2:g.25323413T>A | GRCh38 |
| NC_000020.10:g.25304049T>A , CM000682.1:g.25304049T>A | GRCh37 |
| NC_000020.9:g.25252049T>A | NCBI36 |
| NG_028119.1:g.72570A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.334A>T MANE Select | ENSP00000341408.5:p.Ile112Phe | |
| ENST00000376542.8:c.334A>T | ENSP00000365725.3:p.Ile112Phe | |
| ENST00000672406.1:c.-138A>T | ENSP00000500208.1:n.-138A>T | |
| ENST00000672566.1:c.-138A>T | ENSP00000500106.1:n.-138A>T | |
| ENST00000673121.1:c.-138A>T | ENSP00000499839.1:n.-138A>T | |
| ENST00000673524.1:c.26A>T | ||
| ENST00000339157.9:c.334A>T | ENSP00000341408.5:p.Ile112Phe | |
| ENST00000376542.7:c.334A>T | ENSP00000365725.3:p.Ile112Phe | |
| ENST00000450393.5:c.199A>T | ENSP00000413311.1:p.Ile67Phe | |
| ENST00000461204.1:c.*97A>T | ENSP00000460249.1:n.*97A>T | |
| ENST00000471287.5:c.-138A>T | ENSP00000460950.1:n.-138A>T | |
| ENST00000491682.5:c.-138A>T | ENSP00000459495.1:n.-138A>T | |
| NM_001042472.2:c.334A>T | NP_001035937.1:p.Ile112Phe | |
| NM_015600.4:c.334A>T | NP_056415.1:p.Ile112Phe | |
| XM_005260698.1:c.334A>T | XP_005260755.1:p.Ile112Phe | |
| XM_005260699.3:c.334A>T | XP_005260756.1:p.Ile112Phe | |
| XM_005260700.1:c.-138A>T | XP_005260757.1:n.-138A>T | |
| XM_011529214.1:c.334A>T | XP_011527516.1:p.Ile112Phe | |
| XM_011529215.1:c.-138A>T | XP_011527517.1:n.-138A>T | |
| XM_011529216.1:c.-138A>T | XP_011527518.1:n.-138A>T | |
| XM_011529217.1:c.-204A>T | XP_011527519.1:n.-204A>T | |
| XM_011529218.1:c.-204A>T | XP_011527520.1:n.-204A>T | |
| XM_011529214.2:c.334A>T | XP_011527516.1:p.Ile112Phe | |
| XM_017027796.1:c.-138A>T | XP_016883285.1:n.-138A>T | |
| XM_017027797.2:c.334A>T | XP_016883286.1:p.Ile112Phe | |
| XR_002958465.1:n.344A>T | ||
| XR_002958466.1:n.464A>T | ||
| XR_002958467.1:n.143A>T | ||
| NM_001042472.3:c.334A>T MANE Select | NP_001035937.1:p.Ile112Phe | |
| NM_015600.5:c.334A>T | NP_056415.1:p.Ile112Phe |