Linked Data
ClinVar Variation Id:
1291069
ClinVar RCV Id:
RCV001715710
dbSNP Id:
rs1801157
gnomAD v2:
10-44868257-C-T
gnomAD v3:
10-44372809-C-T
gnomAD v4:
10-44372809-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44372809C>T , CM000672.2:g.44372809C>T | GRCh38 |
| NC_000010.10:g.44868257C>T , CM000672.1:g.44868257C>T | GRCh37 |
| NC_000010.9:g.44188263C>T | NCBI36 |
| NG_016861.1:g.17289G>A | |
| NG_016861.2:g.17289G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374429.6:c.*519G>A | ENSP00000363551.2:n.*519G>A | |
| ENST00000395793.7:c.*79G>A | ENSP00000379139.3:n.*79G>A | |
| NM_000609.6:c.*519G>A | NP_000600.1:n.*519G>A | |
| NM_001277990.1:c.*79G>A | NP_001264919.1:n.*79G>A | |
| XR_001747171.1:n.331+5828G>A | ||
| XR_001747172.1:n.331+5828G>A | ||
| XR_001747173.1:n.331+5828G>A | ||
| XR_001747174.1:n.331+5828G>A | ||
| NM_000609.7:c.*519G>A | NP_000600.1:n.*519G>A | |
| NM_001277990.2:c.*79G>A | NP_001264919.1:n.*79G>A |