Linked Data
ClinVar Variation Id:
337521
ClinVar RCV Id:
RCV000405843
dbSNP Id:
rs184527047
gnomAD v2:
2-96940649-T-C
gnomAD v3:
2-96274911-T-C
gnomAD v4:
2-96274911-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96274911T>C , CM000664.2:g.96274911T>C | GRCh38 |
| NC_000002.11:g.96940649T>C , CM000664.1:g.96940649T>C | GRCh37 |
| NC_000002.10:g.96304376T>C | NCBI36 |
| NG_016973.1:g.35649A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.*101A>G MANE Select | ENSP00000317123.5:n.*101A>G | |
| ENST00000323853.9:c.*101A>G | ENSP00000317123.5:n.*101A>G | |
| ENST00000497539.5:n.2486A>G | ||
| NM_014014.4:c.*101A>G | NP_054733.2:n.*101A>G | |
| NM_014014.5:c.*101A>G MANE Select | NP_054733.2:n.*101A>G |