Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814141T>G , CM000674.2:g.52814141T>G | GRCh38 |
| NC_000012.11:g.53207925T>G , CM000674.1:g.53207925T>G | GRCh37 |
| NC_000012.10:g.51494192T>G | NCBI36 |
| NG_007380.1:g.5411A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-83A>C | ENSP00000448220.1:n.-83A>C |