Linked Data
ClinVar Variation Id:
390903
dbSNP Id:
rs567625495
ExAC:
11:1778622 C / A
gnomAD v2:
11-1778622-C-A
gnomAD v3:
11-1757392-C-A
gnomAD v4:
11-1757392-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757392C>A , CM000673.2:g.1757392C>A | GRCh38 |
| NC_000011.9:g.1778622C>A , CM000673.1:g.1778622C>A | GRCh37 |
| NC_000011.8:g.1735198C>A | NCBI36 |
| NG_008655.1:g.11601G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.636G>T MANE Select | ENSP00000236671.2:p.Leu212= | |
| ENST00000367196.4:c.531G>T | ENSP00000356164.4:p.Leu177= | |
| ENST00000427721.3:c.61G>T | ||
| ENST00000429746.2:c.531G>T | ENSP00000402586.2:p.Leu177= | |
| ENST00000433655.6:c.636G>T | ENSP00000404902.1:p.Leu212= | |
| ENST00000438213.6:c.636G>T | ENSP00000415036.2:p.Leu212= | |
| ENST00000636397.1:c.636G>T | ENSP00000489910.1:p.Leu212= | |
| ENST00000636571.1:c.615G>T | ENSP00000490770.1:p.Leu205= | |
| ENST00000636615.1:c.636G>T | ENSP00000490014.1:p.Leu212= | |
| ENST00000636843.1:c.630G>T | ENSP00000490897.1:p.Leu210= | |
| ENST00000637158.1:n.234G>T | ||
| ENST00000637381.2:n.3064G>T | ||
| ENST00000637387.1:c.636G>T | ENSP00000490598.1:p.Leu212= | |
| ENST00000637815.2:c.636G>T | ENSP00000490344.1:p.Leu212= | |
| ENST00000637915.1:c.636G>T | ENSP00000490471.1:p.Leu212= | |
| ENST00000677300.1:n.1031G>T | ||
| ENST00000678991.1:c.*497G>T | ENSP00000503019.1:n.*497G>T | |
| ENST00000236671.6:c.636G>T | ENSP00000236671.2:p.Leu212= | |
| ENST00000367196.3:c.531G>T | ENSP00000356164.3:p.Leu177= | |
| ENST00000427721.2:c.36G>T | ENSP00000415840.2:p.Leu12= | |
| ENST00000433655.5:c.636G>T | ENSP00000404902.1:p.Leu212= | |
| ENST00000438213.5:c.591G>T | ENSP00000415036.1:p.Leu197= | |
| NM_001909.4:c.636G>T | NP_001900.1:p.Leu212= | |
| NM_001909.5:c.636G>T MANE Select | NP_001900.1:p.Leu212= |