Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097479A>G , CM000663.2:g.40097479A>G | GRCh38 |
| NC_000001.10:g.40563151A>G , CM000663.1:g.40563151A>G | GRCh37 |
| NC_000001.9:g.40335738A>G | NCBI36 |
| NG_009192.1:g.4992T>C , LRG_690:g.4992T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-241T>C | ENSP00000394863.3:n.-241T>C |