Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32255481T>C , CM000668.2:g.32255481T>C | GRCh38 |
| NC_000006.11:g.32223258T>C , CM000668.1:g.32223258T>C | GRCh37 |
| NC_000006.10:g.32331236T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_136244.1:n.242+67T>C | |
| NR_136245.1:n.242+67T>C | |
| NR_136246.1:n.242+67T>C |