Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173664T>A , CM000678.2:g.173664T>A | GRCh38 |
| NC_000016.9:g.223663T>A , CM000678.1:g.223663T>A | GRCh37 |
| NC_000016.8:g.163663T>A | NCBI36 |
| NG_000006.1:g.34527T>A | |
| NG_059186.1:g.2014T>A | |
| NG_059271.1:g.5818T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*64T>A MANE Select | ENSP00000251595.6:n.*64T>A | |
| ENST00000251595.10:c.*64T>A | ENSP00000251595.6:n.*64T>A | |
| ENST00000397806.1:c.*64T>A | ENSP00000380908.1:n.*64T>A | |
| ENST00000482565.1:n.629T>A | ||
| NM_000517.4:c.*64T>A | NP_000508.1:n.*64T>A | |
| NM_000517.6:c.*64T>A MANE Select | NP_000508.1:n.*64T>A |