Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652663G>A , CM000663.2:g.171652663G>A | GRCh38 |
| NC_000001.10:g.171621803G>A , CM000663.1:g.171621803G>A | GRCh37 |
| NC_000001.9:g.169888426G>A | NCBI36 |
| NG_008859.1:g.4971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-52C>T MANE Select | ENSP00000037502.5:n.-52C>T | |
| ENST00000037502.10:c.-52C>T | ENSP00000037502.5:n.-52C>T | |
| NM_000261.2:c.-52C>T MANE Select | NP_000252.1:n.-52C>T |