Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154192109G>C , CM000663.2:g.154192109G>C | GRCh38 |
| NC_000001.10:g.154164585G>C , CM000663.1:g.154164585G>C | GRCh37 |
| NC_000001.9:g.152431209G>C | NCBI36 |
| NG_008621.1:g.5025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368530.6:c.-91C>G | ENSP00000357516.2:n.-91C>G | |
| ENST00000515609.1:c.-49-42C>G | ENSP00000426306.1:n.-49-42C>G | |
| NM_152263.3:c.-91C>G | NP_689476.2:n.-91C>G |