Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060526C>T , CM000664.2:g.219060526C>T | GRCh38 |
| NC_000002.11:g.219925248C>T , CM000664.1:g.219925248C>T | GRCh37 |
| NC_000002.10:g.219633492C>T | NCBI36 |
| NG_016741.1:g.4991G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-59G>A MANE Select | ENSP00000295731.5:n.-59G>A | |
| NM_002181.4:c.-59G>A MANE Select | NP_002172.2:n.-59G>A |