Linked Data
dbSNP Id:
rs1940750699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778315A>C , CM000673.2:g.116778315A>C | GRCh38 |
| NC_000011.9:g.116649031A>C , CM000673.1:g.116649031A>C | GRCh37 |
| NC_000011.8:g.116154241A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*610T>G MANE Select | ENSP00000227322.3:n.*610T>G | |
| ENST00000227322.7:c.*610T>G | ENSP00000227322.3:n.*610T>G | |
| ENST00000429220.5:c.1769T>G | ||
| ENST00000444935.5:c.1902T>G | ||
| NM_001317086.1:c.*610T>G | NP_001304015.1:n.*610T>G | |
| NM_003904.4:c.*610T>G | NP_003895.1:n.*610T>G | |
| NM_003904.5:c.*610T>G MANE Select | NP_003895.1:n.*610T>G | |
| NM_001317086.2:c.*610T>G | NP_001304015.1:n.*610T>G |