Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6870602A>C , CM000670.2:g.6870602A>C | GRCh38 |
| NC_000008.10:g.6728124A>C , CM000670.1:g.6728124A>C | GRCh37 |
| NC_000008.9:g.6715534A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297439.4:c.*79T>G MANE Select | ENSP00000297439.3:n.*79T>G | |
| ENST00000297439.3:c.*79T>G | ENSP00000297439.3:n.*79T>G | |
| NM_005218.3:c.*79T>G | NP_005209.1:n.*79T>G | |
| NM_005218.4:c.*79T>G MANE Select | NP_005209.1:n.*79T>G |