Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043964G>T , CM000672.2:g.114043964G>T | GRCh38 |
| NC_000010.10:g.115803723G>T , CM000672.1:g.115803723G>T | GRCh37 |
| NC_000010.9:g.115793713G>T | NCBI36 |
| NG_012187.1:g.4918G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-169G>T MANE Select | ENSP00000358301.2:n.-169G>T | |
| NM_000684.3:c.-169G>T MANE Select | NP_000675.1:n.-169G>T |