Linked Data
ClinVar Variation Id:
137048
dbSNP Id:
rs587780914
ExAC:
11:1782539 G / A
gnomAD v2:
11-1782539-G-A
gnomAD v4:
11-1761309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1761309G>A , CM000673.2:g.1761309G>A | GRCh38 |
| NC_000011.9:g.1782539G>A , CM000673.1:g.1782539G>A | GRCh37 |
| NC_000011.8:g.1739115G>A | NCBI36 |
| NG_008655.1:g.7684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.228C>T MANE Select | ENSP00000236671.2:p.Asp76= | |
| ENST00000367196.4:c.123C>T | ENSP00000356164.4:p.Asp41= | |
| ENST00000429746.2:c.123C>T | ENSP00000402586.2:p.Asp41= | |
| ENST00000433655.6:c.228C>T | ENSP00000404902.1:p.Asp76= | |
| ENST00000438213.6:c.228C>T | ENSP00000415036.2:p.Asp76= | |
| ENST00000636397.1:c.228C>T | ENSP00000489910.1:p.Asp76= | |
| ENST00000636571.1:c.207+21C>T | ENSP00000490770.1:n.207+21C>T | |
| ENST00000636615.1:c.228C>T | ENSP00000490014.1:p.Asp76= | |
| ENST00000636843.1:c.228C>T | ENSP00000490897.1:p.Asp76= | |
| ENST00000637381.2:n.2656C>T | ||
| ENST00000637387.1:c.228C>T | ENSP00000490598.1:p.Asp76= | |
| ENST00000637815.2:c.228C>T | ENSP00000490344.1:p.Asp76= | |
| ENST00000637915.1:c.228C>T | ENSP00000490471.1:p.Asp76= | |
| ENST00000678991.1:c.*89C>T | ENSP00000503019.1:n.*89C>T | |
| ENST00000236671.6:c.228C>T | ENSP00000236671.2:p.Asp76= | |
| ENST00000367196.3:c.123C>T | ENSP00000356164.3:p.Asp41= | |
| ENST00000433655.5:c.228C>T | ENSP00000404902.1:p.Asp76= | |
| ENST00000438213.5:c.183C>T | ENSP00000415036.1:p.Asp61= | |
| NM_001909.4:c.228C>T | NP_001900.1:p.Asp76= | |
| NM_001909.5:c.228C>T MANE Select | NP_001900.1:p.Asp76= |