Linked Data
ClinVar Variation Id:
354618
dbSNP Id:
rs182581645
gnomAD v2:
5-95727262-G-A
gnomAD v3:
5-96391558-G-A
gnomAD v4:
5-96391558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96391558G>A , CM000667.2:g.96391558G>A | GRCh38 |
| NC_000005.9:g.95727262G>A , CM000667.1:g.95727262G>A | GRCh37 |
| NC_000005.8:g.95753018G>A | NCBI36 |
| NG_021161.1:g.46724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.*1443C>T MANE Select | ENSP00000308024.2:n.*1443C>T | |
| ENST00000311106.7:c.*1443C>T | ENSP00000308024.2:n.*1443C>T | |
| NM_000439.4:c.*1443C>T | NP_000430.3:n.*1443C>T | |
| NM_001177875.1:c.*1443C>T | NP_001171346.1:n.*1443C>T | |
| NR_130776.1:n.354+11906G>A | ||
| NM_000439.5:c.*1443C>T MANE Select | NP_000430.3:n.*1443C>T | |
| NM_001177875.2:c.*1443C>T | NP_001171346.1:n.*1443C>T |