Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652638G>T , CM000663.2:g.171652638G>T | GRCh38 |
| NC_000001.10:g.171621778G>T , CM000663.1:g.171621778G>T | GRCh37 |
| NC_000001.9:g.169888401G>T | NCBI36 |
| NG_008859.1:g.4996C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-27C>A MANE Select | ENSP00000037502.5:n.-27C>A | |
| ENST00000037502.10:c.-27C>A | ENSP00000037502.5:n.-27C>A | |
| NM_000261.2:c.-27C>A MANE Select | NP_000252.1:n.-27C>A |