Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121697037T>C , CM000666.2:g.121697037T>C | GRCh38 |
| NC_000004.11:g.122618192T>C , CM000666.1:g.122618192T>C | GRCh37 |
| NC_000004.10:g.122837642T>C | NCBI36 |
| NG_032042.1:g.4956A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296511.9:c.-210A>G | ENSP00000296511.5:n.-210A>G |