Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131846710A>G , CM000668.2:g.131846710A>G | GRCh38 |
| NC_000006.11:g.132167850A>G , CM000668.1:g.132167850A>G | GRCh37 |
| NC_000006.10:g.132209543A>G | NCBI36 |
| NG_008206.1:g.43695A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684147.1:n.519-1066A>G | ||
| ENST00000647893.1:c.241-1066A>G MANE Select | ENSP00000498074.1:n.241-1066A>G | |
| ENST00000650507.1:c.248-1066A>G | ENSP00000497375.1:n.248-1066A>G | |
| ENST00000360971.6:c.241-1066A>G | ENSP00000354238.2:n.241-1066A>G | |
| ENST00000486853.1:n.261-1066A>G | ||
| ENST00000513998.5:c.241-1066A>G | ENSP00000422424.1:n.241-1066A>G | |
| NM_006208.2:c.241-1066A>G | NP_006199.2:n.241-1066A>G | |
| NM_006208.3:c.241-1066A>G MANE Select | NP_006199.2:n.241-1066A>G |