Linked Data
ClinVar Variation Id:
354621
dbSNP Id:
rs6556922
gnomAD v2:
5-95727372-T-A
gnomAD v3:
5-96391668-T-A
gnomAD v4:
5-96391668-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96391668T>A , CM000667.2:g.96391668T>A | GRCh38 |
| NC_000005.9:g.95727372T>A , CM000667.1:g.95727372T>A | GRCh37 |
| NC_000005.8:g.95753128T>A | NCBI36 |
| NG_021161.1:g.46614A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.*1333A>T MANE Select | ENSP00000308024.2:n.*1333A>T | |
| ENST00000311106.7:c.*1333A>T | ENSP00000308024.2:n.*1333A>T | |
| NM_000439.4:c.*1333A>T | NP_000430.3:n.*1333A>T | |
| NM_001177875.1:c.*1333A>T | NP_001171346.1:n.*1333A>T | |
| NR_130776.1:n.354+12016T>A | ||
| NM_000439.5:c.*1333A>T MANE Select | NP_000430.3:n.*1333A>T | |
| NM_001177875.2:c.*1333A>T | NP_001171346.1:n.*1333A>T |