Linked Data
dbSNP Id:
rs1197970806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23222462T>C , CM000670.2:g.23222462T>C | GRCh38 |
| NC_000008.10:g.23079975T>C , CM000670.1:g.23079975T>C | GRCh37 |
| NC_000008.9:g.23135920T>C | NCBI36 |
| NG_032107.1:g.7706A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.306+2294A>G MANE Select | ENSP00000221132.3:n.306+2294A>G | |
| ENST00000221132.7:c.306+2294A>G | ENSP00000221132.3:n.306+2294A>G | |
| ENST00000524158.5:c.-301+1971A>G | ENSP00000428884.1:n.-301+1971A>G | |
| ENST00000613472.1:c.31+2569A>G | ENSP00000480778.1:n.31+2569A>G | |
| NM_003844.3:c.306+2294A>G | NP_003835.3:n.306+2294A>G | |
| NM_003844.4:c.306+2294A>G MANE Select | NP_003835.3:n.306+2294A>G |