Linked Data
ClinVar Variation Id:
405183
ClinVar RCV Id:
RCV000465470
dbSNP Id:
rs748906368
ExAC:
2:179485856 T / C
gnomAD v2:
2-179485856-T-C
gnomAD v3:
2-178621129-T-C
gnomAD v4:
2-178621129-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621129T>C , CM000664.2:g.178621129T>C | GRCh38 |
| NC_000002.11:g.179485856T>C , CM000664.1:g.179485856T>C | GRCh37 |
| NC_000002.10:g.179194101T>C | NCBI36 |
| NG_011618.3:g.214674A>G , LRG_391:g.214674A>G | |
| NG_051363.1:g.103303T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37885A>G | ENSP00000343764.6:p.Arg12629Gly | |
| ENST00000342175.11:c.18970A>G | ENSP00000340554.6:p.Arg6324Gly | |
| ENST00000359218.10:c.18769A>G | ENSP00000352154.5:p.Arg6257Gly | |
| ENST00000342175.10:c.18970A>G | ENSP00000340554.6:p.Arg6324Gly | |
| ENST00000342992.10:c.37885A>G | ENSP00000343764.6:p.Arg12629Gly | |
| ENST00000359218.9:c.18769A>G | ENSP00000352154.5:p.Arg6257Gly | |
| ENST00000460472.6:c.18394A>G | ENSP00000434586.1:p.Arg6132Gly | |
| ENST00000589042.5:c.45589A>G MANE Select | ENSP00000467141.1:p.Arg15197Gly | |
| ENST00000591111.5:c.40666A>G | ENSP00000465570.1:p.Arg13556Gly | |
| ENST00000615779.4:c.40666A>G | ENSP00000483597.1:p.Arg13556Gly | |
| NM_001256850.1:c.40666A>G | NP_001243779.1:p.Arg13556Gly | |
| NM_001267550.2:c.45589A>G MANE Select | NP_001254479.2:p.Arg15197Gly | |
| NM_003319.4:c.18394A>G | NP_003310.4:p.Arg6132Gly | |
| NM_133378.4:c.37885A>G | NP_596869.4:p.Arg12629Gly | |
| NM_133432.3:c.18769A>G | NP_597676.3:p.Arg6257Gly | |
| NM_133437.4:c.18970A>G | NP_597681.4:p.Arg6324Gly | |
| XM_011511729.1:c.44686A>G | XP_011510031.1:p.Arg14896Gly | |
| XM_011511730.1:c.18580A>G | XP_011510032.1:p.Arg6194Gly | |
| XM_011511731.1:c.18439A>G | XP_011510033.1:p.Arg6147Gly | |
| XM_017004819.1:c.44482A>G | XP_016860308.1:p.Arg14828Gly | |
| XM_017004820.1:c.39880A>G | XP_016860309.1:p.Arg13294Gly | |
| XM_017004821.1:c.39877A>G | XP_016860310.1:p.Arg13293Gly | |
| XM_017004822.1:c.36919A>G | XP_016860311.1:p.Arg12307Gly | |
| XM_017004823.1:c.18535A>G | XP_016860312.1:p.Arg6179Gly | |
| XM_024453094.1:c.40030A>G | XP_024308862.1:p.Arg13344Gly | |
| XM_024453095.1:c.40027A>G | XP_024308863.1:p.Arg13343Gly | |
| XM_024453096.1:c.39460A>G | XP_024308864.1:p.Arg13154Gly | |
| XM_024453097.1:c.36802A>G | XP_024308865.1:p.Arg12268Gly | |
| XM_024453098.1:c.36721A>G | XP_024308866.1:p.Arg12241Gly | |
| XM_024453099.1:c.18484A>G | XP_024308867.1:p.Arg6162Gly | |
| XM_024453100.1:c.8338A>G | XP_024308868.1:p.Arg2780Gly |