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