Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403021G>T , CM000664.2:g.47403021G>T | GRCh38 |
| NC_000002.11:g.47630160G>T , CM000664.1:g.47630160G>T | GRCh37 |
| NC_000002.10:g.47483664G>T | NCBI36 |
| NG_007110.2:g.4898G>T , LRG_218:g.4898G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-171G>T | ENSP00000233146.2:n.-171G>T |