Linked Data
ClinVar Variation Id:
136251
dbSNP Id:
rs201186311
ExAC:
3:128615399 G / A
gnomAD v2:
3-128615399-G-A
gnomAD v3:
3-128896556-G-A
gnomAD v4:
3-128896556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128896556G>A , CM000665.2:g.128896556G>A | GRCh38 |
| NC_000003.11:g.128615399G>A , CM000665.1:g.128615399G>A | GRCh37 |
| NC_000003.10:g.130098089G>A | NCBI36 |
| NG_017064.1:g.22067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.554+20G>A MANE Select | ENSP00000312618.7:n.554+20G>A | |
| ENST00000511325.2:n.632+20G>A | ||
| ENST00000679399.1:c.*448+20G>A | ENSP00000505434.1:n.*448+20G>A | |
| ENST00000679431.1:c.*426+20G>A | ENSP00000506440.1:n.*426+20G>A | |
| ENST00000679613.1:c.554+20G>A | ENSP00000504971.1:n.554+20G>A | |
| ENST00000679715.1:c.185+20G>A | ENSP00000506228.1:n.185+20G>A | |
| ENST00000679824.1:c.*1860+20G>A | ENSP00000505516.1:n.*1860+20G>A | |
| ENST00000679990.1:n.789+20G>A | ||
| ENST00000680636.1:c.554+20G>A | ENSP00000504886.1:n.554+20G>A | |
| ENST00000680744.1:c.554+20G>A | ENSP00000505243.1:n.554+20G>A | |
| ENST00000680764.1:c.*1954+20G>A | ENSP00000505126.1:n.*1954+20G>A | |
| ENST00000681319.1:n.632+20G>A | ||
| ENST00000681367.1:c.554+20G>A | ENSP00000505309.1:n.554+20G>A | |
| ENST00000681552.1:c.554+20G>A | ENSP00000505699.1:n.554+20G>A | |
| ENST00000681583.1:c.554+20G>A | ENSP00000506340.1:n.554+20G>A | |
| ENST00000681585.1:c.554+20G>A | ENSP00000506316.1:n.554+20G>A | |
| ENST00000681589.1:n.768+20G>A | ||
| ENST00000681784.1:n.632+20G>A | ||
| ENST00000681886.1:c.554+20G>A | ENSP00000506500.1:n.554+20G>A | |
| ENST00000308982.11:c.554+20G>A | ENSP00000312618.7:n.554+20G>A | |
| ENST00000505192.5:c.*250+20G>A | ENSP00000426277.1:n.*250+20G>A | |
| ENST00000505867.5:c.*354+20G>A | ENSP00000425346.1:n.*354+20G>A | |
| ENST00000511227.5:c.*448+20G>A | ENSP00000425226.1:n.*448+20G>A | |
| ENST00000512801.5:c.*250+20G>A | ENSP00000427283.1:n.*250+20G>A | |
| ENST00000514643.5:c.*250+20G>A | ENSP00000422020.1:n.*250+20G>A | |
| NM_014049.4:c.554+20G>A | NP_054768.2:n.554+20G>A | |
| NR_033426.1:n.932+20G>A | ||
| XM_011512742.1:c.185+20G>A | XP_011511044.1:n.185+20G>A | |
| XR_427367.1:n.626+20G>A | ||
| XM_024453484.1:c.185+20G>A | XP_024309252.1:n.185+20G>A | |
| XM_024453485.1:c.185+20G>A | XP_024309253.1:n.185+20G>A | |
| XR_427367.3:n.626+20G>A | ||
| NM_014049.5:c.554+20G>A MANE Select | NP_054768.2:n.554+20G>A | |
| NR_033426.2:n.802+20G>A |