Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927828G>C , CM000663.2:g.149927828G>C | GRCh38 |
| NC_000001.10:g.149899720G>C , CM000663.1:g.149899720G>C | GRCh37 |
| NC_000001.9:g.148166344G>C | NCBI36 |
| NG_032777.1:g.5425C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.8:c.-69C>G | ENSP00000271628.8:n.-69C>G | |
| NM_005850.4:c.-69C>G | NP_005841.1:n.-69C>G |