Linked Data
ClinVar Variation Id:
307336
ClinVar RCV Id:
RCV000398645
dbSNP Id:
rs8853
gnomAD v2:
12-115108907-T-C
gnomAD v3:
12-114671102-T-C
gnomAD v4:
12-114671102-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114671102T>C , CM000674.2:g.114671102T>C | GRCh38 |
| NC_000012.11:g.115108907T>C , CM000674.1:g.115108907T>C | GRCh37 |
| NC_000012.10:g.113593290T>C | NCBI36 |
| NG_008315.1:g.18063A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.*739A>G MANE Select | ENSP00000257567.2:n.*739A>G | |
| ENST00000257566.7:c.*739A>G | ENSP00000257566.3:n.*739A>G | |
| ENST00000349155.6:c.*739A>G | ENSP00000257567.2:n.*739A>G | |
| NM_005996.3:c.*739A>G | NP_005987.3:n.*739A>G | |
| NM_016569.3:c.*739A>G | NP_057653.3:n.*739A>G | |
| NM_005996.4:c.*739A>G MANE Select | NP_005987.3:n.*739A>G | |
| NM_016569.4:c.*739A>G | NP_057653.3:n.*739A>G |