Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131846996C>A , CM000668.2:g.131846996C>A | GRCh38 |
| NC_000006.11:g.132168136C>A , CM000668.1:g.132168136C>A | GRCh37 |
| NC_000006.10:g.132209829C>A | NCBI36 |
| NG_008206.1:g.43981C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684147.1:n.519-780C>A | ||
| ENST00000647893.1:c.241-780C>A MANE Select | ENSP00000498074.1:n.241-780C>A | |
| ENST00000650507.1:c.248-780C>A | ENSP00000497375.1:n.248-780C>A | |
| ENST00000360971.6:c.241-780C>A | ENSP00000354238.2:n.241-780C>A | |
| ENST00000486853.1:n.261-780C>A | ||
| ENST00000513998.5:c.241-780C>A | ENSP00000422424.1:n.241-780C>A | |
| NM_006208.2:c.241-780C>A | NP_006199.2:n.241-780C>A | |
| NM_006208.3:c.241-780C>A MANE Select | NP_006199.2:n.241-780C>A |