Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43767412G>T , CM000668.2:g.43767412G>T | GRCh38 |
| NC_000006.11:g.43735149G>T , CM000668.1:g.43735149G>T | GRCh37 |
| NC_000006.10:g.43843127G>T | NCBI36 |
| NG_008732.1:g.2197G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318876.2:c.945+238141G>T | NP_001305805.1:n.945+238141G>T |