Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47402985C>A , CM000664.2:g.47402985C>A | GRCh38 |
| NC_000002.11:g.47630124C>A , CM000664.1:g.47630124C>A | GRCh37 |
| NC_000002.10:g.47483628C>A | NCBI36 |
| NG_007110.2:g.4862C>A , LRG_218:g.4862C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-207C>A | ENSP00000233146.2:n.-207C>A |