Linked Data
ClinVar Variation Id:
554967
dbSNP Id:
rs769218623
ExAC:
11:71152378 A / G
gnomAD v2:
11-71152378-A-G
gnomAD v3:
11-71441332-A-G
gnomAD v4:
11-71441332-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71441332A>G , CM000673.2:g.71441332A>G | GRCh38 |
| NC_000011.9:g.71152378A>G , CM000673.1:g.71152378A>G | GRCh37 |
| NC_000011.8:g.70830026A>G | NCBI36 |
| NG_012655.2:g.12100T>C , LRG_340:g.12100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.521T>C | ENSP00000435707.3:p.Phe174Ser | |
| ENST00000526780.6:c.521T>C | ENSP00000435668.2:p.Phe174Ser | |
| ENST00000527316.6:c.347T>C | ENSP00000435047.2:p.Phe116Ser | |
| ENST00000682708.1:c.521T>C | ENSP00000506866.1:p.Phe174Ser | |
| ENST00000682880.1:c.521T>C | ENSP00000507520.1:p.Phe174Ser | |
| ENST00000683287.1:c.557T>C | ENSP00000507607.1:p.Phe186Ser | |
| ENST00000683714.1:c.521T>C | ENSP00000508207.1:p.Phe174Ser | |
| ENST00000683874.1:n.798T>C | ||
| ENST00000685320.1:c.-65T>C | ENSP00000509319.1:n.-65T>C | |
| ENST00000690257.1:c.425T>C | ENSP00000510750.1:p.Phe142Ser | |
| ENST00000355527.8:c.521T>C MANE Select | ENSP00000347717.4:p.Phe174Ser | |
| ENST00000355527.7:c.521T>C | ENSP00000347717.3:p.Phe174Ser | |
| ENST00000407721.6:c.521T>C | ENSP00000384739.2:p.Phe174Ser | |
| ENST00000527316.5:c.425T>C | ENSP00000435047.1:p.Phe142Ser | |
| ENST00000534701.1:n.16T>C | ||
| NM_001163817.1:c.521T>C | NP_001157289.1:p.Phe174Ser | |
| NM_001360.2:c.521T>C , LRG_340t1:c.521T>C | NP_001351.2:p.Phe174Ser | |
| XM_011544777.1:c.521T>C | XP_011543079.1:p.Phe174Ser | |
| XM_011544777.2:c.521T>C | XP_011543079.1:p.Phe174Ser | |
| NM_001163817.2:c.521T>C | NP_001157289.1:p.Phe174Ser | |
| NM_001360.3:c.521T>C MANE Select | NP_001351.2:p.Phe174Ser |