Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63961426C>G , CM000667.2:g.63961426C>G | GRCh38 |
| NC_000005.9:g.63257253C>G , CM000667.1:g.63257253C>G | GRCh37 |
| NC_000005.8:g.63293009C>G | NCBI36 |
| NG_032816.1:g.5867G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000524.4:c.294G>C MANE Select | NP_000515.2:p.Val98= |
| ENST00000323865.5:c.294G>C MANE Select | ENSP00000316244.4:p.Val98= |
| NM_000524.3:c.294G>C | NP_000515.2:p.Val98= |
| ENST00000323865.4:c.294G>C | ENSP00000316244.3:p.Val98= |