Linked Data
ClinVar Variation Id:
304560
dbSNP Id:
rs143415103
ExAC:
11:36615705 A / T
gnomAD v2:
11-36615705-A-T
gnomAD v3:
11-36594155-A-T
gnomAD v4:
11-36594155-A-T
ERepo:
CA5950635/MONDO:0000573/124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36594155A>T , CM000673.2:g.36594155A>T | GRCh38 |
| NC_000011.9:g.36615705A>T , CM000673.1:g.36615705A>T | GRCh37 |
| NC_000011.8:g.36572281A>T | NCBI36 |
| NG_007573.1:g.9082T>A , LRG_99:g.9082T>A | |
| NG_033154.1:g.4663A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.14T>A | ENSP00000436895.2:p.Met5Lys | |
| ENST00000529083.2:c.14T>A | ENSP00000436327.2:p.Met5Lys | |
| ENST00000532616.2:c.14T>A | ENSP00000432174.2:p.Met5Lys | |
| ENST00000311485.8:c.14T>A MANE Select | ENSP00000308620.4:p.Met5Lys | |
| ENST00000311485.7:c.14T>A | ENSP00000308620.3:p.Met5Lys | |
| ENST00000524423.1:n.131+3947T>A | ||
| ENST00000527033.5:c.14T>A | ENSP00000436895.1:p.Met5Lys | |
| ENST00000529083.1:c.14T>A | ENSP00000436327.1:p.Met5Lys | |
| ENST00000618712.4:c.14T>A | ENSP00000478672.1:p.Met5Lys | |
| NM_000536.3:c.14T>A | NP_000527.2:p.Met5Lys | |
| NM_001243785.1:c.14T>A | NP_001230714.1:p.Met5Lys | |
| NM_001243786.1:c.14T>A | NP_001230715.1:p.Met5Lys | |
| NM_000536.4:c.14T>A MANE Select | NP_000527.2:p.Met5Lys | |
| NM_001243785.2:c.14T>A | NP_001230714.1:p.Met5Lys | |
| NM_001243786.2:c.14T>A | NP_001230715.1:p.Met5Lys |