Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044044T>G , CM000672.2:g.114044044T>G | GRCh38 |
| NC_000010.10:g.115803803T>G , CM000672.1:g.115803803T>G | GRCh37 |
| NC_000010.9:g.115793793T>G | NCBI36 |
| NG_012187.1:g.4998T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-89T>G MANE Select | ENSP00000358301.2:n.-89T>G | |
| NM_000684.3:c.-89T>G MANE Select | NP_000675.1:n.-89T>G |