Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069763T>C , CM000668.2:g.112069763T>C | GRCh38 |
| NC_000006.11:g.112390966T>C , CM000668.1:g.112390966T>C | GRCh37 |
| NC_000006.10:g.112497659T>C | NCBI36 |
| NG_011748.1:g.20689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361714.5:c.*143T>C | ENSP00000354734.2:n.*143T>C | |
| ENST00000368666.6:c.*143T>C | ENSP00000357655.3:n.*143T>C |