Linked Data
dbSNP Id:
rs1590903575
gnomAD v4:
11-1753599-T-C
MyVariant Identifiers:
chr11:g.1774829T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753599T>C , CM000673.2:g.1753599T>C | GRCh38 |
| NC_000011.9:g.1774829T>C , CM000673.1:g.1774829T>C | GRCh37 |
| NC_000011.8:g.1731405T>C | NCBI36 |
| NG_008655.1:g.15394A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1143A>G MANE Select | ENSP00000236671.2:p.Pro381= | |
| ENST00000367196.4:c.1038A>G | ENSP00000356164.4:p.Pro346= | |
| ENST00000427721.3:c.568A>G | ||
| ENST00000429746.2:c.1038A>G | ENSP00000402586.2:p.Pro346= | |
| ENST00000433655.6:c.*309A>G | ENSP00000404902.1:n.*309A>G | |
| ENST00000438213.6:c.1260A>G | ENSP00000415036.2:p.Pro420= | |
| ENST00000636397.1:c.1071+204A>G | ENSP00000489910.1:n.1071+204A>G | |
| ENST00000636571.1:c.1122A>G | ENSP00000490770.1:p.Pro374= | |
| ENST00000636579.1:c.72+204A>G | ENSP00000490489.1:n.72+204A>G | |
| ENST00000636615.1:c.1071+204A>G | ENSP00000490014.1:n.1071+204A>G | |
| ENST00000636843.1:c.1137A>G | ENSP00000490897.1:p.Pro379= | |
| ENST00000637158.1:n.741A>G | ||
| ENST00000637381.2:n.3571A>G | ||
| ENST00000637387.1:c.1122A>G | ENSP00000490598.1:p.Pro374= | |
| ENST00000637815.2:c.1125A>G | ENSP00000490344.1:p.Pro375= | |
| ENST00000637915.1:c.1134A>G | ENSP00000490471.1:p.Pro378= | |
| ENST00000637937.1:n.451A>G | ||
| ENST00000678991.1:c.*1004A>G | ENSP00000503019.1:n.*1004A>G | |
| ENST00000236671.6:c.1143A>G | ENSP00000236671.2:p.Pro381= | |
| ENST00000427721.2:c.471+204A>G | ENSP00000415840.2:n.471+204A>G | |
| ENST00000429746.1:c.474A>G | ENSP00000402586.1:p.Pro158= | |
| ENST00000433655.5:c.*309A>G | ENSP00000404902.1:n.*309A>G | |
| NM_001909.4:c.1143A>G | NP_001900.1:p.Pro381= | |
| NM_001909.5:c.1143A>G MANE Select | NP_001900.1:p.Pro381= |