Linked Data
ClinVar Variation Id:
36172
dbSNP Id:
rs193922260
gnomAD v3:
7-44145708-T-A
gnomAD v4:
7-44145708-T-A
ERepo:
CA213707/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145708T>A , CM000669.2:g.44145708T>A | GRCh38 |
| NC_000007.13:g.44185307T>A , CM000669.1:g.44185307T>A | GRCh37 |
| NC_000007.12:g.44151832T>A | NCBI36 |
| NG_008847.1:g.48716A>T | |
| NG_008847.2:g.57463A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1040A>T | ENSP00000379142.4:n.*1040A>T | |
| ENST00000616242.5:c.*162A>T | ENSP00000482149.2:n.*162A>T | |
| ENST00000683378.1:n.268A>T | ||
| ENST00000336642.9:c.76A>T | ENSP00000338009.5:p.Ile26Phe | |
| ENST00000345378.7:c.1045A>T | ENSP00000223366.2:p.Ile349Phe | |
| ENST00000403799.8:c.1042A>T MANE Select | ENSP00000384247.3:p.Ile348Phe | |
| ENST00000671824.1:c.1105A>T | ENSP00000500264.1:p.Ile369Phe | |
| ENST00000672743.1:n.54A>T | ||
| ENST00000673284.1:c.1042A>T | ENSP00000499852.1:p.Ile348Phe | |
| ENST00000336642.8:c.94A>T | ENSP00000338009.4:p.Ile32Phe | |
| ENST00000345378.6:c.1045A>T | ENSP00000223366.2:p.Ile349Phe | |
| ENST00000395796.7:c.1039A>T | ENSP00000379142.3:p.Ile347Phe | |
| ENST00000403799.7:c.1042A>T | ENSP00000384247.3:p.Ile348Phe | |
| ENST00000437084.1:c.991A>T | ENSP00000402840.1:p.Ile331Phe | |
| ENST00000459642.1:n.422A>T | ||
| ENST00000473353.1:n.340A>T | ||
| ENST00000616242.4:c.1039A>T | ENSP00000482149.1:p.Ile347Phe | |
| NM_000162.3:c.1042A>T | NP_000153.1:p.Ile348Phe | |
| NM_033507.1:c.1045A>T | NP_277042.1:p.Ile349Phe | |
| NM_033508.1:c.1039A>T | NP_277043.1:p.Ile347Phe | |
| NM_000162.4:c.1042A>T | NP_000153.1:p.Ile348Phe | |
| NM_001354800.1:c.1042A>T | NP_001341729.1:p.Ile348Phe | |
| NM_001354801.1:c.31A>T | NP_001341730.1:p.Ile11Phe | |
| NM_001354802.1:c.-99A>T | NP_001341731.1:n.-99A>T | |
| NM_001354803.1:c.76A>T | NP_001341732.1:p.Ile26Phe | |
| NM_033507.2:c.1045A>T | NP_277042.1:p.Ile349Phe | |
| NM_033508.2:c.1039A>T | NP_277043.1:p.Ile347Phe | |
| XM_024446707.1:c.-99A>T | XP_024302475.1:n.-99A>T | |
| NM_000162.5:c.1042A>T MANE Select | NP_000153.1:p.Ile348Phe | |
| NM_033507.3:c.1045A>T | NP_277042.1:p.Ile349Phe | |
| NM_033508.3:c.1039A>T | NP_277043.1:p.Ile347Phe | |
| NM_001354803.2:c.76A>T | NP_001341732.1:p.Ile26Phe |