Linked Data
ClinVar Variation Id:
378279
ClinVar RCV Id:
RCV000427906
dbSNP Id:
rs909455480
gnomAD v2:
1-115250813-T-C
gnomAD v3:
1-114708192-T-C
gnomAD v4:
1-114708192-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114708192T>C , CM000663.2:g.114708192T>C | GRCh38 |
| NC_000001.10:g.115250813T>C , CM000663.1:g.115250813T>C | GRCh37 |
| NC_000001.9:g.115052336T>C | NCBI36 |
| NG_007572.1:g.13703A>G , LRG_92:g.13703A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*5A>G MANE Select | ENSP00000358548.4:n.*5A>G | |
| ENST00000369535.4:c.*5A>G | ENSP00000358548.4:n.*5A>G | |
| NM_002524.4:c.*5A>G | NP_002515.1:n.*5A>G | |
| NM_002524.5:c.*5A>G MANE Select | NP_002515.1:n.*5A>G |