Linked Data
dbSNP Id:
rs973091177
gnomAD v2:
11-1774884-T-C
gnomAD v3:
11-1753654-T-C
gnomAD v4:
11-1753654-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753654T>C , CM000673.2:g.1753654T>C | GRCh38 |
| NC_000011.9:g.1774884T>C , CM000673.1:g.1774884T>C | GRCh37 |
| NC_000011.8:g.1731460T>C | NCBI36 |
| NG_008655.1:g.15339A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1088A>G MANE Select | ENSP00000236671.2:p.Lys363Arg | |
| ENST00000367196.4:c.983A>G | ENSP00000356164.4:p.Lys328Arg | |
| ENST00000427721.3:c.513A>G | ||
| ENST00000429746.2:c.983A>G | ENSP00000402586.2:p.Lys328Arg | |
| ENST00000433655.6:c.*254A>G | ENSP00000404902.1:n.*254A>G | |
| ENST00000438213.6:c.1205A>G | ENSP00000415036.2:p.Lys402Arg | |
| ENST00000497544.3:n.796A>G | ||
| ENST00000636397.1:c.1071+149A>G | ENSP00000489910.1:n.1071+149A>G | |
| ENST00000636571.1:c.1067A>G | ENSP00000490770.1:p.Lys356Arg | |
| ENST00000636579.1:c.72+149A>G | ENSP00000490489.1:n.72+149A>G | |
| ENST00000636615.1:c.1071+149A>G | ENSP00000490014.1:n.1071+149A>G | |
| ENST00000636843.1:c.1082A>G | ENSP00000490897.1:p.Lys361Arg | |
| ENST00000637158.1:n.686A>G | ||
| ENST00000637381.2:n.3516A>G | ||
| ENST00000637387.1:c.1067A>G | ENSP00000490598.1:p.Lys356Arg | |
| ENST00000637815.2:c.1070A>G | ENSP00000490344.1:p.Lys357Arg | |
| ENST00000637915.1:c.1079A>G | ENSP00000490471.1:p.Lys360Arg | |
| ENST00000637937.1:n.396A>G | ||
| ENST00000678991.1:c.*949A>G | ENSP00000503019.1:n.*949A>G | |
| ENST00000236671.6:c.1088A>G | ENSP00000236671.2:p.Lys363Arg | |
| ENST00000427721.2:c.471+149A>G | ENSP00000415840.2:n.471+149A>G | |
| ENST00000429746.1:c.419A>G | ENSP00000402586.1:p.Lys140Arg | |
| ENST00000433655.5:c.*254A>G | ENSP00000404902.1:n.*254A>G | |
| NM_001909.4:c.1088A>G | NP_001900.1:p.Lys363Arg | |
| NM_001909.5:c.1088A>G MANE Select | NP_001900.1:p.Lys363Arg |