Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960322G>A , CM000667.2:g.63960322G>A | GRCh38 |
| NC_000005.9:g.63256149G>A , CM000667.1:g.63256149G>A | GRCh37 |
| NC_000005.8:g.63291905G>A | NCBI36 |
| NG_032816.1:g.6971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*129C>T MANE Select | ENSP00000316244.4:n.*129C>T | |
| NM_000524.3:c.*129C>T | NP_000515.2:n.*129C>T | |
| NM_000524.4:c.*129C>T MANE Select | NP_000515.2:n.*129C>T |