Linked Data
ClinVar Variation Id:
137060
dbSNP Id:
rs146073498
ExAC:
11:1778619 G / C
gnomAD v2:
11-1778619-G-C
gnomAD v3:
11-1757389-G-C
gnomAD v4:
11-1757389-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757389G>C , CM000673.2:g.1757389G>C | GRCh38 |
| NC_000011.9:g.1778619G>C , CM000673.1:g.1778619G>C | GRCh37 |
| NC_000011.8:g.1735195G>C | NCBI36 |
| NG_008655.1:g.11604C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.639C>G MANE Select | ENSP00000236671.2:p.Pro213= | |
| ENST00000367196.4:c.534C>G | ENSP00000356164.4:p.Pro178= | |
| ENST00000427721.3:c.64C>G | ||
| ENST00000429746.2:c.534C>G | ENSP00000402586.2:p.Pro178= | |
| ENST00000433655.6:c.639C>G | ENSP00000404902.1:p.Pro213= | |
| ENST00000438213.6:c.639C>G | ENSP00000415036.2:p.Pro213= | |
| ENST00000636397.1:c.639C>G | ENSP00000489910.1:p.Pro213= | |
| ENST00000636571.1:c.618C>G | ENSP00000490770.1:p.Pro206= | |
| ENST00000636615.1:c.639C>G | ENSP00000490014.1:p.Pro213= | |
| ENST00000636843.1:c.633C>G | ENSP00000490897.1:p.Pro211= | |
| ENST00000637158.1:n.237C>G | ||
| ENST00000637381.2:n.3067C>G | ||
| ENST00000637387.1:c.639C>G | ENSP00000490598.1:p.Pro213= | |
| ENST00000637815.2:c.639C>G | ENSP00000490344.1:p.Pro213= | |
| ENST00000637915.1:c.639C>G | ENSP00000490471.1:p.Pro213= | |
| ENST00000677300.1:n.1034C>G | ||
| ENST00000678991.1:c.*500C>G | ENSP00000503019.1:n.*500C>G | |
| ENST00000236671.6:c.639C>G | ENSP00000236671.2:p.Pro213= | |
| ENST00000367196.3:c.534C>G | ENSP00000356164.3:p.Pro178= | |
| ENST00000427721.2:c.39C>G | ENSP00000415840.2:p.Pro13= | |
| ENST00000433655.5:c.639C>G | ENSP00000404902.1:p.Pro213= | |
| ENST00000438213.5:c.594C>G | ENSP00000415036.1:p.Pro198= | |
| NM_001909.4:c.639C>G | NP_001900.1:p.Pro213= | |
| NM_001909.5:c.639C>G MANE Select | NP_001900.1:p.Pro213= |