Linked Data
ClinVar Variation Id:
65470
dbSNP Id:
rs397515328
ExAC:
11:118972281 T / A
gnomAD v2:
11-118972281-T-A
gnomAD v3:
11-119101571-T-A
gnomAD v4:
11-119101571-T-A
PubMed:
PMID:23249953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119101571T>A , CM000673.2:g.119101571T>A | GRCh38 |
| NC_000011.9:g.118972281T>A , CM000673.1:g.118972281T>A | GRCh37 |
| NC_000011.8:g.118477491T>A | NCBI36 |
| NG_008918.1:g.5505A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.261A>T | ||
| ENST00000530052.2:n.297A>T | ||
| ENST00000682191.1:n.287A>T | ||
| ENST00000682192.1:n.287A>T | ||
| ENST00000682232.1:c.85A>T | ENSP00000507302.1:p.Ile29Phe | |
| ENST00000682326.1:c.85A>T | ENSP00000508129.1:p.Ile29Phe | |
| ENST00000682404.1:n.297A>T | ||
| ENST00000682517.1:n.297A>T | ||
| ENST00000682652.1:n.526A>T | ||
| ENST00000682665.1:n.308A>T | ||
| ENST00000682691.1:n.308A>T | ||
| ENST00000682791.1:c.85A>T | ENSP00000507312.1:p.Ile29Phe | |
| ENST00000682811.1:c.85A>T | ENSP00000508196.1:p.Ile29Phe | |
| ENST00000682946.1:c.85A>T | ENSP00000506856.1:p.Ile29Phe | |
| ENST00000683143.1:c.85A>T | ENSP00000507168.1:p.Ile29Phe | |
| ENST00000683373.1:n.287A>T | ||
| ENST00000683558.1:n.287A>T | ||
| ENST00000683955.1:n.308A>T | ||
| ENST00000684142.1:c.85A>T | ENSP00000508008.1:p.Ile29Phe | |
| ENST00000684252.1:n.308A>T | ||
| ENST00000684255.1:c.85A>T | ENSP00000507398.1:p.Ile29Phe | |
| ENST00000684315.1:n.288A>T | ||
| ENST00000684345.1:c.85A>T | ENSP00000507163.1:p.Ile29Phe | |
| ENST00000684499.1:c.85A>T | ENSP00000506800.1:p.Ile29Phe | |
| ENST00000684682.1:c.85A>T | ENSP00000507326.1:p.Ile29Phe | |
| ENST00000354202.9:c.85A>T MANE Select | ENSP00000346142.4:p.Ile29Phe | |
| ENST00000639704.1:c.85A>T | ENSP00000491336.1:p.Ile29Phe | |
| ENST00000640102.1:c.85A>T | ENSP00000492027.1:p.Ile29Phe | |
| ENST00000640747.1:c.85A>T | ENSP00000492730.1:p.Ile29Phe | |
| ENST00000354202.8:c.85A>T | ENSP00000346142.4:p.Ile29Phe | |
| ENST00000392834.7:c.85A>T | ENSP00000376579.3:p.Ile29Phe | |
| ENST00000409993.6:c.85A>T | ENSP00000386597.2:p.Ile29Phe | |
| ENST00000414373.5:c.85A>T | ENSP00000402019.1:p.Ile29Phe | |
| ENST00000442480.1:c.132+669A>T | ENSP00000406591.1:n.132+669A>T | |
| ENST00000445653.5:n.262A>T | ||
| ENST00000460183.1:n.290A>T | ||
| ENST00000472016.1:n.283A>T | ||
| ENST00000481084.5:n.572A>T | ||
| NM_001382.3:c.85A>T | NP_001373.2:p.Ile29Phe | |
| XM_005271422.2:c.85A>T | XP_005271479.1:p.Ile29Phe | |
| XM_011542648.1:c.-116A>T | XP_011540950.1:n.-116A>T | |
| XR_947801.1:n.521A>T | ||
| XM_005271422.3:c.85A>T | XP_005271479.1:p.Ile29Phe | |
| XM_011542648.2:c.-116A>T | XP_011540950.1:n.-116A>T | |
| XM_017017293.2:c.-116A>T | XP_016872782.1:n.-116A>T | |
| XM_017017294.2:c.85A>T | XP_016872783.1:p.Ile29Phe | |
| XM_017017295.1:c.-97A>T | XP_016872784.1:n.-97A>T | |
| XR_001747785.2:n.308A>T | ||
| XR_947801.2:n.308A>T | ||
| NM_001382.4:c.85A>T MANE Select | NP_001373.2:p.Ile29Phe |