Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060531A>C , CM000664.2:g.219060531A>C | GRCh38 |
| NC_000002.11:g.219925253A>C , CM000664.1:g.219925253A>C | GRCh37 |
| NC_000002.10:g.219633497A>C | NCBI36 |
| NG_016741.1:g.4986T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-64T>G MANE Select | ENSP00000295731.5:n.-64T>G | |
| NM_002181.4:c.-64T>G MANE Select | NP_002172.2:n.-64T>G |