Linked Data
ClinVar Variation Id:
167785
dbSNP Id:
rs369434563
ExAC:
2:179496998 C / T
gnomAD v2:
2-179496998-C-T
gnomAD v3:
2-178632271-C-T
gnomAD v4:
2-178632271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632271C>T , CM000664.2:g.178632271C>T | GRCh38 |
| NC_000002.11:g.179496998C>T , CM000664.1:g.179496998C>T | GRCh37 |
| NC_000002.10:g.179205243C>T | NCBI36 |
| NG_011618.3:g.203532G>A , LRG_391:g.203532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35919G>A | ENSP00000343764.6:p.Ser11973= | |
| ENST00000342175.11:c.17004G>A | ENSP00000340554.6:p.Ser5668= | |
| ENST00000359218.10:c.16803G>A | ENSP00000352154.5:p.Ser5601= | |
| ENST00000342175.10:c.17004G>A | ENSP00000340554.6:p.Ser5668= | |
| ENST00000342992.10:c.35919G>A | ENSP00000343764.6:p.Ser11973= | |
| ENST00000359218.9:c.16803G>A | ENSP00000352154.5:p.Ser5601= | |
| ENST00000460472.6:c.16428G>A | ENSP00000434586.1:p.Ser5476= | |
| ENST00000589042.5:c.43623G>A MANE Select | ENSP00000467141.1:p.Ser14541= | |
| ENST00000591111.5:c.38700G>A | ENSP00000465570.1:p.Ser12900= | |
| ENST00000615779.4:c.38700G>A | ENSP00000483597.1:p.Ser12900= | |
| NM_001256850.1:c.38700G>A | NP_001243779.1:p.Ser12900= | |
| NM_001267550.2:c.43623G>A MANE Select | NP_001254479.2:p.Ser14541= | |
| NM_003319.4:c.16428G>A | NP_003310.4:p.Ser5476= | |
| NM_133378.4:c.35919G>A | NP_596869.4:p.Ser11973= | |
| NM_133432.3:c.16803G>A | NP_597676.3:p.Ser5601= | |
| NM_133437.4:c.17004G>A | NP_597681.4:p.Ser5668= | |
| XM_011511729.1:c.42720G>A | XP_011510031.1:p.Ser14240= | |
| XM_011511730.1:c.16614G>A | XP_011510032.1:p.Ser5538= | |
| XM_011511731.1:c.16473G>A | XP_011510033.1:p.Ser5491= | |
| XM_017004819.1:c.42516G>A | XP_016860308.1:p.Ser14172= | |
| XM_017004820.1:c.37914G>A | XP_016860309.1:p.Ser12638= | |
| XM_017004821.1:c.37911G>A | XP_016860310.1:p.Ser12637= | |
| XM_017004822.1:c.34953G>A | XP_016860311.1:p.Ser11651= | |
| XM_017004823.1:c.16569G>A | XP_016860312.1:p.Ser5523= | |
| XM_024453094.1:c.38064G>A | XP_024308862.1:p.Ser12688= | |
| XM_024453095.1:c.38061G>A | XP_024308863.1:p.Ser12687= | |
| XM_024453096.1:c.37494G>A | XP_024308864.1:p.Ser12498= | |
| XM_024453097.1:c.34836G>A | XP_024308865.1:p.Ser11612= | |
| XM_024453098.1:c.34755G>A | XP_024308866.1:p.Ser11585= | |
| XM_024453099.1:c.16518G>A | XP_024308867.1:p.Ser5506= | |
| XM_024453100.1:c.6372G>A | XP_024308868.1:p.Ser2124= |