Linked Data
dbSNP Id:
rs1694509534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778259T>G , CM000673.2:g.116778259T>G | GRCh38 |
| NC_000011.9:g.116648975T>G , CM000673.1:g.116648975T>G | GRCh37 |
| NC_000011.8:g.116154185T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*666A>C MANE Select | ENSP00000227322.3:n.*666A>C | |
| ENST00000227322.7:c.*666A>C | ENSP00000227322.3:n.*666A>C | |
| ENST00000429220.5:c.1825A>C | ||
| ENST00000444935.5:c.1958A>C | ||
| NM_001317086.1:c.*666A>C | NP_001304015.1:n.*666A>C | |
| NM_003904.4:c.*666A>C | NP_003895.1:n.*666A>C | |
| NM_003904.5:c.*666A>C MANE Select | NP_003895.1:n.*666A>C | |
| NM_001317086.2:c.*666A>C | NP_001304015.1:n.*666A>C |