Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060575G= , CM000664.2:g.219060575G= | GRCh38 |
| NC_000002.11:g.219925297G= , CM000664.1:g.219925297G= | GRCh37 |
| NC_000002.10:g.219633541G= | NCBI36 |
| NG_016741.1:g.4942C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-108C= MANE Select | ENSP00000295731.5:n.-108C= | |
| NM_002181.4:c.-108C= MANE Select | NP_002172.2:n.-108C= |