Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49429505G>C , CM000681.2:g.49429505G>C | GRCh38 |
| NC_000019.9:g.49932762G>C , CM000681.1:g.49932762G>C | GRCh37 |
| NC_000019.8:g.54624574G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020309.4:c.*1014C>G MANE Select | NP_064705.1:n.*1014C>G |
| ENST00000221485.8:c.*1014C>G MANE Select | ENSP00000221485.2:n.*1014C>G |
| NM_020309.3:c.*1014C>G | NP_064705.1:n.*1014C>G |
| ENST00000221485.7:c.*1014C>G | ENSP00000221485.2:n.*1014C>G |