Linked Data
ClinVar Variation Id:
291950
ClinVar RCV Id:
RCV000361225
dbSNP Id:
rs374889066
gnomAD v2:
1-115247931-A-T
gnomAD v3:
1-114705310-A-T
gnomAD v4:
1-114705310-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705310A>T , CM000663.2:g.114705310A>T | GRCh38 |
| NC_000001.10:g.115247931A>T , CM000663.1:g.115247931A>T | GRCh37 |
| NC_000001.9:g.115049454A>T | NCBI36 |
| NG_007572.1:g.16585T>A , LRG_92:g.16585T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*2784T>A MANE Select | ENSP00000358548.4:n.*2784T>A | |
| ENST00000369535.4:c.*2784T>A | ENSP00000358548.4:n.*2784T>A | |
| NM_002524.4:c.*2784T>A | NP_002515.1:n.*2784T>A | |
| NM_002524.5:c.*2784T>A MANE Select | NP_002515.1:n.*2784T>A |