Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131850193C>G , CM000668.2:g.131850193C>G | GRCh38 |
| NC_000006.11:g.132171333C>G , CM000668.1:g.132171333C>G | GRCh37 |
| NC_000006.10:g.132213026C>G | NCBI36 |
| NG_008206.1:g.47178C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006208.3:c.430+87C>G MANE Select | NP_006199.2:n.430+87C>G |
| ENST00000647893.1:c.430+87C>G MANE Select | ENSP00000498074.1:n.430+87C>G |
| NM_006208.2:c.430+87C>G | NP_006199.2:n.430+87C>G |
| ENST00000360971.6:c.430+87C>G | ENSP00000354238.2:n.430+87C>G |
| ENST00000486853.1:n.450+87C>G | |
| ENST00000513998.5:c.430+87C>G | ENSP00000422424.1:n.430+87C>G |
| ENST00000650147.1:c.108+87C>G | |
| ENST00000650437.1:c.108+87C>G |