Linked Data
ClinVar Variation Id:
307329
ClinVar RCV Id:
RCV000319833
dbSNP Id:
rs1061651
gnomAD v2:
12-115108361-T-C
gnomAD v3:
12-114670556-T-C
gnomAD v4:
12-114670556-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114670556T>C , CM000674.2:g.114670556T>C | GRCh38 |
| NC_000012.11:g.115108361T>C , CM000674.1:g.115108361T>C | GRCh37 |
| NC_000012.10:g.113592744T>C | NCBI36 |
| NG_008315.1:g.18609A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.*1285A>G MANE Select | ENSP00000257567.2:n.*1285A>G | |
| ENST00000257566.7:c.*1285A>G | ENSP00000257566.3:n.*1285A>G | |
| ENST00000349155.6:c.*1285A>G | ENSP00000257567.2:n.*1285A>G | |
| NM_005996.3:c.*1285A>G | NP_005987.3:n.*1285A>G | |
| NM_016569.3:c.*1285A>G | NP_057653.3:n.*1285A>G | |
| NM_005996.4:c.*1285A>G MANE Select | NP_005987.3:n.*1285A>G | |
| NM_016569.4:c.*1285A>G | NP_057653.3:n.*1285A>G |