Linked Data
ClinVar Variation Id:
332867
ClinVar RCV Id:
RCV000271481
RCV000277289
RCV000328849
RCV000363601
RCV000376613
RCV000732908
RCV001479457
RCV003317194
dbSNP Id:
rs144848584
ExAC:
2:179489408 C / T
gnomAD v2:
2-179489408-C-T
gnomAD v3:
2-178624681-C-T
gnomAD v4:
2-178624681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178624681C>T , CM000664.2:g.178624681C>T | GRCh38 |
| NC_000002.11:g.179489408C>T , CM000664.1:g.179489408C>T | GRCh37 |
| NC_000002.10:g.179197653C>T | NCBI36 |
| NG_011618.3:g.211122G>A , LRG_391:g.211122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36895G>A | ENSP00000343764.6:p.Gly12299Arg | |
| ENST00000342175.11:c.17980G>A | ENSP00000340554.6:p.Gly5994Arg | |
| ENST00000359218.10:c.17779G>A | ENSP00000352154.5:p.Gly5927Arg | |
| ENST00000342175.10:c.17980G>A | ENSP00000340554.6:p.Gly5994Arg | |
| ENST00000342992.10:c.36895G>A | ENSP00000343764.6:p.Gly12299Arg | |
| ENST00000359218.9:c.17779G>A | ENSP00000352154.5:p.Gly5927Arg | |
| ENST00000460472.6:c.17404G>A | ENSP00000434586.1:p.Gly5802Arg | |
| ENST00000589042.5:c.44599G>A MANE Select | ENSP00000467141.1:p.Gly14867Arg | |
| ENST00000591111.5:c.39676G>A | ENSP00000465570.1:p.Gly13226Arg | |
| ENST00000615779.4:c.39676G>A | ENSP00000483597.1:p.Gly13226Arg | |
| NM_001256850.1:c.39676G>A | NP_001243779.1:p.Gly13226Arg | |
| NM_001267550.2:c.44599G>A MANE Select | NP_001254479.2:p.Gly14867Arg | |
| NM_003319.4:c.17404G>A | NP_003310.4:p.Gly5802Arg | |
| NM_133378.4:c.36895G>A | NP_596869.4:p.Gly12299Arg | |
| NM_133432.3:c.17779G>A | NP_597676.3:p.Gly5927Arg | |
| NM_133437.4:c.17980G>A | NP_597681.4:p.Gly5994Arg | |
| XM_011511729.1:c.43696G>A | XP_011510031.1:p.Gly14566Arg | |
| XM_011511730.1:c.17590G>A | XP_011510032.1:p.Gly5864Arg | |
| XM_011511731.1:c.17449G>A | XP_011510033.1:p.Gly5817Arg | |
| XM_017004819.1:c.43492G>A | XP_016860308.1:p.Gly14498Arg | |
| XM_017004820.1:c.38890G>A | XP_016860309.1:p.Gly12964Arg | |
| XM_017004821.1:c.38887G>A | XP_016860310.1:p.Gly12963Arg | |
| XM_017004822.1:c.35929G>A | XP_016860311.1:p.Gly11977Arg | |
| XM_017004823.1:c.17545G>A | XP_016860312.1:p.Gly5849Arg | |
| XM_024453094.1:c.39040G>A | XP_024308862.1:p.Gly13014Arg | |
| XM_024453095.1:c.39037G>A | XP_024308863.1:p.Gly13013Arg | |
| XM_024453096.1:c.38470G>A | XP_024308864.1:p.Gly12824Arg | |
| XM_024453097.1:c.35812G>A | XP_024308865.1:p.Gly11938Arg | |
| XM_024453098.1:c.35731G>A | XP_024308866.1:p.Gly11911Arg | |
| XM_024453099.1:c.17494G>A | XP_024308867.1:p.Gly5832Arg | |
| XM_024453100.1:c.7348G>A | XP_024308868.1:p.Gly2450Arg |