Linked Data
ClinVar Variation Id:
302752
dbSNP Id:
rs779048359
ExAC:
11:118972270 G / A
gnomAD v2:
11-118972270-G-A
gnomAD v3:
11-119101560-G-A
gnomAD v4:
11-119101560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119101560G>A , CM000673.2:g.119101560G>A | GRCh38 |
| NC_000011.9:g.118972270G>A , CM000673.1:g.118972270G>A | GRCh37 |
| NC_000011.8:g.118477480G>A | NCBI36 |
| NG_008918.1:g.5516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.272C>T | ||
| ENST00000530052.2:n.308C>T | ||
| ENST00000682191.1:n.298C>T | ||
| ENST00000682192.1:n.298C>T | ||
| ENST00000682232.1:c.96C>T | ENSP00000507302.1:p.Phe32= | |
| ENST00000682326.1:c.96C>T | ENSP00000508129.1:p.Phe32= | |
| ENST00000682404.1:n.308C>T | ||
| ENST00000682517.1:n.308C>T | ||
| ENST00000682652.1:n.537C>T | ||
| ENST00000682665.1:n.319C>T | ||
| ENST00000682691.1:n.319C>T | ||
| ENST00000682791.1:c.96C>T | ENSP00000507312.1:p.Phe32= | |
| ENST00000682811.1:c.96C>T | ENSP00000508196.1:p.Phe32= | |
| ENST00000682946.1:c.96C>T | ENSP00000506856.1:p.Phe32= | |
| ENST00000683143.1:c.96C>T | ENSP00000507168.1:p.Phe32= | |
| ENST00000683373.1:n.298C>T | ||
| ENST00000683558.1:n.298C>T | ||
| ENST00000683955.1:n.319C>T | ||
| ENST00000684142.1:c.96C>T | ENSP00000508008.1:p.Phe32= | |
| ENST00000684252.1:n.319C>T | ||
| ENST00000684255.1:c.96C>T | ENSP00000507398.1:p.Phe32= | |
| ENST00000684315.1:n.299C>T | ||
| ENST00000684345.1:c.96C>T | ENSP00000507163.1:p.Phe32= | |
| ENST00000684499.1:c.96C>T | ENSP00000506800.1:p.Phe32= | |
| ENST00000684682.1:c.96C>T | ENSP00000507326.1:p.Phe32= | |
| ENST00000354202.9:c.96C>T MANE Select | ENSP00000346142.4:p.Phe32= | |
| ENST00000639704.1:c.96C>T | ENSP00000491336.1:p.Phe32= | |
| ENST00000640102.1:c.96C>T | ENSP00000492027.1:p.Phe32= | |
| ENST00000640747.1:c.96C>T | ENSP00000492730.1:p.Phe32= | |
| ENST00000354202.8:c.96C>T | ENSP00000346142.4:p.Phe32= | |
| ENST00000392834.7:c.96C>T | ENSP00000376579.3:p.Phe32= | |
| ENST00000409993.6:c.96C>T | ENSP00000386597.2:p.Phe32= | |
| ENST00000414373.5:c.96C>T | ENSP00000402019.1:p.Phe32= | |
| ENST00000442480.1:c.132+680C>T | ENSP00000406591.1:n.132+680C>T | |
| ENST00000445653.5:n.273C>T | ||
| ENST00000460183.1:n.301C>T | ||
| ENST00000472016.1:n.294C>T | ||
| ENST00000481084.5:n.583C>T | ||
| NM_001382.3:c.96C>T | NP_001373.2:p.Phe32= | |
| XM_005271422.2:c.96C>T | XP_005271479.1:p.Phe32= | |
| XM_011542648.1:c.-105C>T | XP_011540950.1:n.-105C>T | |
| XR_947801.1:n.532C>T | ||
| XM_005271422.3:c.96C>T | XP_005271479.1:p.Phe32= | |
| XM_011542648.2:c.-105C>T | XP_011540950.1:n.-105C>T | |
| XM_017017293.2:c.-105C>T | XP_016872782.1:n.-105C>T | |
| XM_017017294.2:c.96C>T | XP_016872783.1:p.Phe32= | |
| XM_017017295.1:c.-86C>T | XP_016872784.1:n.-86C>T | |
| XR_001747785.2:n.319C>T | ||
| XR_947801.2:n.319C>T | ||
| NM_001382.4:c.96C>T MANE Select | NP_001373.2:p.Phe32= |