Linked Data
ClinVar Variation Id:
304669
ClinVar RCV Id:
RCV000325803
dbSNP Id:
rs149094042
gnomAD v2:
11-44285316-C-T
gnomAD v3:
11-44263766-C-T
gnomAD v4:
11-44263766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44263766C>T , CM000673.2:g.44263766C>T | GRCh38 |
| NC_000011.9:g.44285316C>T , CM000673.1:g.44285316C>T | GRCh37 |
| NC_000011.8:g.44241892C>T | NCBI36 |
| NG_015809.1:g.51401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.*1088G>A MANE Select | ENSP00000498217.1:n.*1088G>A | |
| ENST00000329255.3:c.*1088G>A | ENSP00000332744.3:n.*1088G>A | |
| NM_021926.3:c.*1088G>A | NP_068745.2:n.*1088G>A | |
| XM_011520265.1:c.*1088G>A | XP_011518567.1:n.*1088G>A | |
| XM_011520266.1:c.*1088G>A | XP_011518568.1:n.*1088G>A | |
| NM_021926.4:c.*1088G>A MANE Select | NP_068745.2:n.*1088G>A |