Linked Data
ClinVar Variation Id:
387382
dbSNP Id:
rs141472083
ExAC:
7:5568240 C / T
gnomAD v2:
7-5568240-C-T
gnomAD v3:
7-5528609-C-T
gnomAD v4:
7-5528609-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5528609C>T , CM000669.2:g.5528609C>T | GRCh38 |
| NC_000007.13:g.5568240C>T , CM000669.1:g.5568240C>T | GRCh37 |
| NC_000007.12:g.5534766C>T | NCBI36 |
| NG_007992.1:g.6993G>A , LRG_132:g.6993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432588.6:c.474G>A | ENSP00000407473.2:p.Gly158= | |
| ENST00000473257.3:c.345G>A | ENSP00000501773.1:p.Gly115= | |
| ENST00000477812.2:n.1021G>A | ||
| ENST00000493945.6:c.474G>A | ENSP00000494269.1:p.Gly158= | |
| ENST00000642480.2:c.474G>A | ENSP00000495995.2:p.Gly158= | |
| ENST00000645576.1:c.426G>A | ENSP00000496101.1:p.Gly142= | |
| ENST00000646664.1:c.474G>A MANE Select | ENSP00000494750.1:p.Gly158= | |
| ENST00000647275.1:c.108G>A | ENSP00000494185.1:p.Gly36= | |
| ENST00000674681.1:c.474G>A | ENSP00000502821.1:p.Gly158= | |
| ENST00000675515.1:c.474G>A | ENSP00000501862.1:p.Gly158= | |
| ENST00000676189.1:c.*17G>A | ENSP00000502538.1:n.*17G>A | |
| ENST00000676319.1:c.88-826G>A | ENSP00000502193.1:n.88-826G>A | |
| ENST00000676397.1:c.474G>A | ENSP00000502286.1:p.Gly158= | |
| ENST00000331789.9:c.474G>A | ENSP00000349960.4:p.Gly158= | |
| ENST00000425660.5:c.*137G>A | ENSP00000409264.1:n.*137G>A | |
| ENST00000432588.5:c.474G>A | ENSP00000407473.1:p.Gly158= | |
| ENST00000462494.5:n.999G>A | ||
| ENST00000473257.1:n.192G>A | ||
| ENST00000477812.1:n.681G>A | ||
| ENST00000484841.5:n.629G>A | ||
| ENST00000493945.5:n.480G>A | ||
| NM_001101.3:c.474G>A , LRG_132t1:c.474G>A | NP_001092.1:p.Gly158= | |
| XM_006715764.1:c.108G>A | XP_006715827.1:p.Gly36= | |
| NM_001101.4:c.474G>A | NP_001092.1:p.Gly158= | |
| NM_001101.5:c.474G>A MANE Select | NP_001092.1:p.Gly158= |