Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24794911T>C , CM000666.2:g.24794911T>C | GRCh38 |
| NC_000004.11:g.24796533T>C , CM000666.1:g.24796533T>C | GRCh37 |
| NC_000004.10:g.24405631T>C | NCBI36 |
| NG_012213.1:g.4449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598411.1:c.-16-4595T>C | ENSP00000472134.1:n.-16-4595T>C |