Linked Data
ClinVar Variation Id:
573475
ClinVar RCV Id:
RCV000695159
dbSNP Id:
rs146584017
ExAC:
11:36615684 A / G
gnomAD v2:
11-36615684-A-G
gnomAD v3:
11-36594134-A-G
gnomAD v4:
11-36594134-A-G
ERepo:
CA5950633/MONDO:0000573/124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36594134A>G , CM000673.2:g.36594134A>G | GRCh38 |
| NC_000011.9:g.36615684A>G , CM000673.1:g.36615684A>G | GRCh37 |
| NC_000011.8:g.36572260A>G | NCBI36 |
| NG_007573.1:g.9103T>C , LRG_99:g.9103T>C | |
| NG_033154.1:g.4642A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.35T>C | ENSP00000436895.2:p.Ile12Thr | |
| ENST00000529083.2:c.35T>C | ENSP00000436327.2:p.Ile12Thr | |
| ENST00000532616.2:c.35T>C | ENSP00000432174.2:p.Ile12Thr | |
| ENST00000311485.8:c.35T>C MANE Select | ENSP00000308620.4:p.Ile12Thr | |
| ENST00000311485.7:c.35T>C | ENSP00000308620.3:p.Ile12Thr | |
| ENST00000524423.1:n.131+3968T>C | ||
| ENST00000527033.5:c.35T>C | ENSP00000436895.1:p.Ile12Thr | |
| ENST00000529083.1:c.35T>C | ENSP00000436327.1:p.Ile12Thr | |
| ENST00000618712.4:c.35T>C | ENSP00000478672.1:p.Ile12Thr | |
| NM_000536.3:c.35T>C | NP_000527.2:p.Ile12Thr | |
| NM_001243785.1:c.35T>C | NP_001230714.1:p.Ile12Thr | |
| NM_001243786.1:c.35T>C | NP_001230715.1:p.Ile12Thr | |
| NM_000536.4:c.35T>C MANE Select | NP_000527.2:p.Ile12Thr | |
| NM_001243785.2:c.35T>C | NP_001230714.1:p.Ile12Thr | |
| NM_001243786.2:c.35T>C | NP_001230715.1:p.Ile12Thr |