Linked Data
ClinVar Variation Id:
134829
dbSNP Id:
rs142737453
ExAC:
1:43805205 C / G
gnomAD v2:
1-43805205-C-G
gnomAD v3:
1-43339534-C-G
gnomAD v4:
1-43339534-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43339534C>G , CM000663.2:g.43339534C>G | GRCh38 |
| NC_000001.10:g.43805205C>G , CM000663.1:g.43805205C>G | GRCh37 |
| NC_000001.9:g.43577792C>G | NCBI36 |
| NG_007525.1:g.6731C>G , LRG_510:g.6731C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.655C>G MANE Select | ENSP00000361548.3:p.Gln219Glu | |
| ENST00000413998.7:c.634C>G | ENSP00000414004.3:p.Gln212Glu | |
| ENST00000638732.1:n.655C>G | ||
| ENST00000372470.7:c.655C>G | ENSP00000361548.3:p.Gln219Glu | |
| ENST00000413998.6:c.655C>G | ENSP00000414004.2:p.Gln219Glu | |
| ENST00000612993.1:c.655C>G | ENSP00000480273.1:p.Gln219Glu | |
| NM_005373.2:c.655C>G , LRG_510t1:c.655C>G | NP_005364.1:p.Gln219Glu | |
| XM_011541478.1:c.634C>G | XP_011539780.1:p.Gln212Glu | |
| XM_017001320.1:c.826C>G | XP_016856809.1:p.Gln276Glu | |
| NM_005373.3:c.655C>G MANE Select | NP_005364.1:p.Gln219Glu |