Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069765A>T , CM000668.2:g.112069765A>T | GRCh38 |
| NC_000006.11:g.112390968A>T , CM000668.1:g.112390968A>T | GRCh37 |
| NC_000006.10:g.112497661A>T | NCBI36 |
| NG_011748.1:g.20691A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361714.5:c.*145A>T | ENSP00000354734.2:n.*145A>T | |
| ENST00000368666.6:c.*145A>T | ENSP00000357655.3:n.*145A>T |