Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927882A>G , CM000663.2:g.149927882A>G | GRCh38 |
| NC_000001.10:g.149899774A>G , CM000663.1:g.149899774A>G | GRCh37 |
| NC_000001.9:g.148166398A>G | NCBI36 |
| NG_032777.1:g.5371T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.8:c.-123T>C | ENSP00000271628.8:n.-123T>C | |
| NM_005850.4:c.-123T>C | NP_005841.1:n.-123T>C |