Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17084957C>T , CM000684.2:g.17084957C>T | GRCh38 |
| NC_000022.10:g.17565847C>T , CM000684.1:g.17565847C>T | GRCh37 |
| NC_000022.9:g.15945847C>T | NCBI36 |
| NG_028257.1:g.4997C>T , LRG_355:g.4997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477874.1:n.4C>T |