Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.76357928G>C , CM000680.2:g.76357928G>C | GRCh38 |
| NC_000018.9:g.74069883G>C , CM000680.1:g.74069883G>C | GRCh37 |
| NC_000018.8:g.72198871G>C | NCBI36 |
| NG_032949.1:g.142263C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014643.4:c.*4570C>G MANE Select | NP_055458.1:n.*4570C>G |
| ENST00000443185.7:c.*4570C>G MANE Select | ENSP00000394757.2:n.*4570C>G |
| NM_014643.3:c.*4570C>G | NP_055458.1:n.*4570C>G |