Linked Data
ClinVar Variation Id:
291951
ClinVar RCV Id:
RCV000268936
dbSNP Id:
rs886045100
gnomAD v4:
1-114705380-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705380C>A , CM000663.2:g.114705380C>A | GRCh38 |
| NC_000001.10:g.115248001C>A , CM000663.1:g.115248001C>A | GRCh37 |
| NC_000001.9:g.115049524C>A | NCBI36 |
| NG_007572.1:g.16515G>T , LRG_92:g.16515G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*2714G>T MANE Select | ENSP00000358548.4:n.*2714G>T | |
| ENST00000369535.4:c.*2714G>T | ENSP00000358548.4:n.*2714G>T | |
| NM_002524.4:c.*2714G>T | NP_002515.1:n.*2714G>T | |
| NM_002524.5:c.*2714G>T MANE Select | NP_002515.1:n.*2714G>T |