Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28162173A>C , CM000668.2:g.28162173A>C | GRCh38 |
| NC_000006.11:g.28129951A>C , CM000668.1:g.28129951A>C | GRCh37 |
| NC_000006.10:g.28237930A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562227.2:n.53+352A>C | ||
| ENST00000440790.6:n.41+352A>C | ||
| ENST00000570126.1:n.30+352A>C | ||
| NR_103448.1:n.61+352A>C |