Linked Data
ClinVar Variation Id:
349525
ClinVar RCV Id:
RCV000390093
dbSNP Id:
rs28703660
gnomAD v2:
4-71512084-G-A
gnomAD v3:
4-70646367-G-A
gnomAD v4:
4-70646367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70646367G>A , CM000666.2:g.70646367G>A | GRCh38 |
| NC_000004.11:g.71512084G>A , CM000666.1:g.71512084G>A | GRCh37 |
| NC_000004.10:g.71730948G>A | NCBI36 |
| NG_013024.1:g.22624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396073.4:c.*1512G>A MANE Select | ENSP00000379383.4:n.*1512G>A | |
| ENST00000396073.3:c.*1512G>A | ENSP00000379383.3:n.*1512G>A | |
| ENST00000472903.5:n.99+8524G>A | ||
| NM_031889.2:c.*1512G>A | NP_114095.2:n.*1512G>A | |
| XM_006714056.2:c.*1512G>A | XP_006714119.1:n.*1512G>A | |
| XM_006714056.4:c.*1512G>A | XP_006714119.1:n.*1512G>A | |
| NM_001368133.1:c.*1512G>A | NP_001355062.1:n.*1512G>A | |
| NM_031889.3:c.*1512G>A MANE Select | NP_114095.2:n.*1512G>A |