Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960311C>G , CM000667.2:g.63960311C>G | GRCh38 |
| NC_000005.9:g.63256138C>G , CM000667.1:g.63256138C>G | GRCh37 |
| NC_000005.8:g.63291894C>G | NCBI36 |
| NG_032816.1:g.6982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*140G>C MANE Select | ENSP00000316244.4:n.*140G>C | |
| NM_000524.3:c.*140G>C | NP_000515.2:n.*140G>C | |
| NM_000524.4:c.*140G>C MANE Select | NP_000515.2:n.*140G>C |