Linked Data
ClinVar Variation Id:
46936
ClinVar RCV Id:
RCV000040206
RCV000477228
RCV000619166
RCV000770042
RCV001131656
RCV001131655
RCV001131657
RCV001131658
RCV001131659
RCV001719769
dbSNP Id:
rs370597107
ExAC:
2:179506014 T / C
gnomAD v2:
2-179506014-T-C
gnomAD v3:
2-178641287-T-C
gnomAD v4:
2-178641287-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178641287T>C , CM000664.2:g.178641287T>C | GRCh38 |
| NC_000002.11:g.179506014T>C , CM000664.1:g.179506014T>C | GRCh37 |
| NC_000002.10:g.179214259T>C | NCBI36 |
| NG_011618.3:g.194516A>G , LRG_391:g.194516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32883A>G | ENSP00000343764.6:p.Glu10961= | |
| ENST00000342175.11:c.13968A>G | ENSP00000340554.6:p.Glu4656= | |
| ENST00000359218.10:c.13767A>G | ENSP00000352154.5:p.Glu4589= | |
| ENST00000342175.10:c.13968A>G | ENSP00000340554.6:p.Glu4656= | |
| ENST00000342992.10:c.32883A>G | ENSP00000343764.6:p.Glu10961= | |
| ENST00000359218.9:c.13767A>G | ENSP00000352154.5:p.Glu4589= | |
| ENST00000414766.5:c.2550A>G | ENSP00000401501.1:p.Glu850= | |
| ENST00000426232.5:c.597-657A>G | ||
| ENST00000446966.1:c.995-657A>G | ENSP00000408004.1:n.995-657A>G | |
| ENST00000460472.6:c.13392A>G | ENSP00000434586.1:p.Glu4464= | |
| ENST00000589042.5:c.40587A>G MANE Select | ENSP00000467141.1:p.Glu13529= | |
| ENST00000591111.5:c.35664A>G | ENSP00000465570.1:p.Glu11888= | |
| ENST00000615779.4:c.35664A>G | ENSP00000483597.1:p.Glu11888= | |
| NM_001256850.1:c.35664A>G | NP_001243779.1:p.Glu11888= | |
| NM_001267550.2:c.40587A>G MANE Select | NP_001254479.2:p.Glu13529= | |
| NM_003319.4:c.13392A>G | NP_003310.4:p.Glu4464= | |
| NM_133378.4:c.32883A>G | NP_596869.4:p.Glu10961= | |
| NM_133432.3:c.13767A>G | NP_597676.3:p.Glu4589= | |
| NM_133437.4:c.13968A>G | NP_597681.4:p.Glu4656= | |
| XM_011511729.1:c.39684A>G | XP_011510031.1:p.Glu13228= | |
| XM_011511730.1:c.13578A>G | XP_011510032.1:p.Glu4526= | |
| XM_011511731.1:c.13437A>G | XP_011510033.1:p.Glu4479= | |
| XM_017004819.1:c.39480A>G | XP_016860308.1:p.Glu13160= | |
| XM_017004820.1:c.34878A>G | XP_016860309.1:p.Glu11626= | |
| XM_017004821.1:c.34875A>G | XP_016860310.1:p.Glu11625= | |
| XM_017004822.1:c.31968A>G | XP_016860311.1:p.Glu10656= | |
| XM_017004823.1:c.13533A>G | XP_016860312.1:p.Glu4511= | |
| XM_024453094.1:c.35028A>G | XP_024308862.1:p.Glu11676= | |
| XM_024453095.1:c.35025A>G | XP_024308863.1:p.Glu11675= | |
| XM_024453096.1:c.34458A>G | XP_024308864.1:p.Glu11486= | |
| XM_024453097.1:c.31800A>G | XP_024308865.1:p.Glu10600= | |
| XM_024453098.1:c.31719A>G | XP_024308866.1:p.Glu10573= | |
| XM_024453099.1:c.13533A>G | XP_024308867.1:p.Glu4511= | |
| XM_024453100.1:c.3336A>G | XP_024308868.1:p.Glu1112= |