Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960191G>C , CM000667.2:g.63960191G>C | GRCh38 |
| NC_000005.9:g.63256018G>C , CM000667.1:g.63256018G>C | GRCh37 |
| NC_000005.8:g.63291774G>C | NCBI36 |
| NG_032816.1:g.7102C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000524.4:c.*260C>G MANE Select | NP_000515.2:n.*260C>G |
| ENST00000323865.5:c.*260C>G MANE Select | ENSP00000316244.4:n.*260C>G |
| NM_000524.3:c.*260C>G | NP_000515.2:n.*260C>G |