Linked Data
ClinVar Variation Id:
136253
dbSNP Id:
rs115532916
ExAC:
3:128622922 G / A
gnomAD v2:
3-128622922-G-A
gnomAD v3:
3-128904079-G-A
gnomAD v4:
3-128904079-G-A
PubMed:
PMID:21057504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128904079G>A , CM000665.2:g.128904079G>A | GRCh38 |
| NC_000003.11:g.128622922G>A , CM000665.1:g.128622922G>A | GRCh37 |
| NC_000003.10:g.130105612G>A | NCBI36 |
| NG_017064.1:g.29590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.976G>A MANE Select | ENSP00000312618.7:p.Ala326Thr | |
| ENST00000511325.2:n.1054G>A | ||
| ENST00000679399.1:c.*870G>A | ENSP00000505434.1:n.*870G>A | |
| ENST00000679431.1:c.*852G>A | ENSP00000506440.1:n.*852G>A | |
| ENST00000679613.1:c.976G>A | ENSP00000504971.1:p.Ala326Thr | |
| ENST00000679715.1:c.607G>A | ENSP00000506228.1:p.Ala203Thr | |
| ENST00000679824.1:c.*2282G>A | ENSP00000505516.1:n.*2282G>A | |
| ENST00000679990.1:n.1211G>A | ||
| ENST00000680636.1:c.976G>A | ENSP00000504886.1:p.Ala326Thr | |
| ENST00000680744.1:c.*329G>A | ENSP00000505243.1:n.*329G>A | |
| ENST00000680764.1:c.*2380G>A | ENSP00000505126.1:n.*2380G>A | |
| ENST00000681319.1:n.1054G>A | ||
| ENST00000681367.1:c.976G>A | ENSP00000505309.1:p.Ala326Thr | |
| ENST00000681552.1:c.976G>A | ENSP00000505699.1:p.Ala326Thr | |
| ENST00000681583.1:c.976G>A | ENSP00000506340.1:p.Ala326Thr | |
| ENST00000681585.1:c.976G>A | ENSP00000506316.1:p.Ala326Thr | |
| ENST00000681589.1:n.1190G>A | ||
| ENST00000681784.1:n.1054G>A | ||
| ENST00000681886.1:c.*169G>A | ENSP00000506500.1:n.*169G>A | |
| ENST00000308982.11:c.976G>A | ENSP00000312618.7:p.Ala326Thr | |
| ENST00000505192.5:c.*672G>A | ENSP00000426277.1:n.*672G>A | |
| ENST00000505867.5:c.*776G>A | ENSP00000425346.1:n.*776G>A | |
| ENST00000508971.1:c.265G>A | ENSP00000422683.1:p.Ala89Thr | |
| ENST00000511227.5:c.*870G>A | ENSP00000425226.1:n.*870G>A | |
| ENST00000511526.5:n.481G>A | ||
| NM_014049.4:c.976G>A | NP_054768.2:p.Ala326Thr | |
| NR_033426.1:n.1354G>A | ||
| XM_011512742.1:c.607G>A | XP_011511044.1:p.Ala203Thr | |
| XR_427367.1:n.1052G>A | ||
| XM_024453484.1:c.607G>A | XP_024309252.1:p.Ala203Thr | |
| XM_024453485.1:c.607G>A | XP_024309253.1:p.Ala203Thr | |
| XR_427367.3:n.1052G>A | ||
| NM_014049.5:c.976G>A MANE Select | NP_054768.2:p.Ala326Thr | |
| NR_033426.2:n.1224G>A |