Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151020527C>A , CM000667.2:g.151020527C>A | GRCh38 |
| NC_000005.9:g.150400088C>A , CM000667.1:g.150400088C>A | GRCh37 |
| NC_000005.8:g.150380281C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622181.4:c.-128C>A | ENSP00000484258.1:n.-128C>A | |
| NM_002084.3:c.-128C>A | NP_002075.2:n.-128C>A | |
| NM_001329790.1:c.-128C>A | NP_001316719.1:n.-128C>A | |
| NM_002084.4:c.-128C>A | NP_002075.2:n.-128C>A |