Linked Data
ClinVar Variation Id:
502294
dbSNP Id:
rs372999684
ExAC:
11:1780259 C / T
gnomAD v2:
11-1780259-C-T
gnomAD v3:
11-1759029-C-T
gnomAD v4:
11-1759029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1759029C>T , CM000673.2:g.1759029C>T | GRCh38 |
| NC_000011.9:g.1780259C>T , CM000673.1:g.1780259C>T | GRCh37 |
| NC_000011.8:g.1736835C>T | NCBI36 |
| NG_008655.1:g.9964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.411G>A MANE Select | ENSP00000236671.2:p.Ser137= | |
| ENST00000367196.4:c.306G>A | ENSP00000356164.4:p.Ser102= | |
| ENST00000429746.2:c.306G>A | ENSP00000402586.2:p.Ser102= | |
| ENST00000433655.6:c.411G>A | ENSP00000404902.1:p.Ser137= | |
| ENST00000438213.6:c.411G>A | ENSP00000415036.2:p.Ser137= | |
| ENST00000636397.1:c.411G>A | ENSP00000489910.1:p.Ser137= | |
| ENST00000636571.1:c.390G>A | ENSP00000490770.1:p.Ser130= | |
| ENST00000636615.1:c.411G>A | ENSP00000490014.1:p.Ser137= | |
| ENST00000636843.1:c.405G>A | ENSP00000490897.1:p.Ser135= | |
| ENST00000637381.2:n.2839G>A | ||
| ENST00000637387.1:c.411G>A | ENSP00000490598.1:p.Ser137= | |
| ENST00000637815.2:c.411G>A | ENSP00000490344.1:p.Ser137= | |
| ENST00000637915.1:c.411G>A | ENSP00000490471.1:p.Ser137= | |
| ENST00000677300.1:n.806G>A | ||
| ENST00000678991.1:c.*272G>A | ENSP00000503019.1:n.*272G>A | |
| ENST00000236671.6:c.411G>A | ENSP00000236671.2:p.Ser137= | |
| ENST00000367196.3:c.306G>A | ENSP00000356164.3:p.Ser102= | |
| ENST00000427721.2:c.-190G>A | ENSP00000415840.2:n.-190G>A | |
| ENST00000433655.5:c.411G>A | ENSP00000404902.1:p.Ser137= | |
| ENST00000438213.5:c.366G>A | ENSP00000415036.1:p.Ser122= | |
| NM_001909.4:c.411G>A | NP_001900.1:p.Ser137= | |
| NM_001909.5:c.411G>A MANE Select | NP_001900.1:p.Ser137= |