Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154192108A>G , CM000663.2:g.154192108A>G | GRCh38 |
| NC_000001.10:g.154164584A>G , CM000663.1:g.154164584A>G | GRCh37 |
| NC_000001.9:g.152431208A>G | NCBI36 |
| NG_008621.1:g.5026T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368530.6:c.-90T>C | ENSP00000357516.2:n.-90T>C | |
| ENST00000515609.1:c.-49-41T>C | ENSP00000426306.1:n.-49-41T>C | |
| NM_152263.3:c.-90T>C | NP_689476.2:n.-90T>C |