Linked Data
ClinVar Variation Id:
263941
dbSNP Id:
rs755492644
ExAC:
2:179495939 T / C
gnomAD v2:
2-179495939-T-C
gnomAD v3:
2-178631212-T-C
gnomAD v4:
2-178631212-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178631212T>C , CM000664.2:g.178631212T>C | GRCh38 |
| NC_000002.11:g.179495939T>C , CM000664.1:g.179495939T>C | GRCh37 |
| NC_000002.10:g.179204184T>C | NCBI36 |
| NG_011618.3:g.204591A>G , LRG_391:g.204591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36132A>G | ENSP00000343764.6:p.Ala12044= | |
| ENST00000342175.11:c.17217A>G | ENSP00000340554.6:p.Ala5739= | |
| ENST00000359218.10:c.17016A>G | ENSP00000352154.5:p.Ala5672= | |
| ENST00000342175.10:c.17217A>G | ENSP00000340554.6:p.Ala5739= | |
| ENST00000342992.10:c.36132A>G | ENSP00000343764.6:p.Ala12044= | |
| ENST00000359218.9:c.17016A>G | ENSP00000352154.5:p.Ala5672= | |
| ENST00000460472.6:c.16641A>G | ENSP00000434586.1:p.Ala5547= | |
| ENST00000589042.5:c.43836A>G MANE Select | ENSP00000467141.1:p.Ala14612= | |
| ENST00000591111.5:c.38913A>G | ENSP00000465570.1:p.Ala12971= | |
| ENST00000615779.4:c.38913A>G | ENSP00000483597.1:p.Ala12971= | |
| NM_001256850.1:c.38913A>G | NP_001243779.1:p.Ala12971= | |
| NM_001267550.2:c.43836A>G MANE Select | NP_001254479.2:p.Ala14612= | |
| NM_003319.4:c.16641A>G | NP_003310.4:p.Ala5547= | |
| NM_133378.4:c.36132A>G | NP_596869.4:p.Ala12044= | |
| NM_133432.3:c.17016A>G | NP_597676.3:p.Ala5672= | |
| NM_133437.4:c.17217A>G | NP_597681.4:p.Ala5739= | |
| XM_011511729.1:c.42933A>G | XP_011510031.1:p.Ala14311= | |
| XM_011511730.1:c.16827A>G | XP_011510032.1:p.Ala5609= | |
| XM_011511731.1:c.16686A>G | XP_011510033.1:p.Ala5562= | |
| XM_017004819.1:c.42729A>G | XP_016860308.1:p.Ala14243= | |
| XM_017004820.1:c.38127A>G | XP_016860309.1:p.Ala12709= | |
| XM_017004821.1:c.38124A>G | XP_016860310.1:p.Ala12708= | |
| XM_017004822.1:c.35166A>G | XP_016860311.1:p.Ala11722= | |
| XM_017004823.1:c.16782A>G | XP_016860312.1:p.Ala5594= | |
| XM_024453094.1:c.38277A>G | XP_024308862.1:p.Ala12759= | |
| XM_024453095.1:c.38274A>G | XP_024308863.1:p.Ala12758= | |
| XM_024453096.1:c.37707A>G | XP_024308864.1:p.Ala12569= | |
| XM_024453097.1:c.35049A>G | XP_024308865.1:p.Ala11683= | |
| XM_024453098.1:c.34968A>G | XP_024308866.1:p.Ala11656= | |
| XM_024453099.1:c.16731A>G | XP_024308867.1:p.Ala5577= | |
| XM_024453100.1:c.6585A>G | XP_024308868.1:p.Ala2195= |