Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154192106G>A , CM000663.2:g.154192106G>A | GRCh38 |
| NC_000001.10:g.154164582G>A , CM000663.1:g.154164582G>A | GRCh37 |
| NC_000001.9:g.152431206G>A | NCBI36 |
| NG_008621.1:g.5028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368530.6:c.-88C>T | ENSP00000357516.2:n.-88C>T | |
| ENST00000515609.1:c.-49-39C>T | ENSP00000426306.1:n.-49-39C>T | |
| NM_152263.3:c.-88C>T | NP_689476.2:n.-88C>T |