Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837508G>A , CM000672.2:g.102837508G>A | GRCh38 |
| NC_000010.10:g.104597265G>A , CM000672.1:g.104597265G>A | GRCh37 |
| NC_000010.9:g.104587255G>A | NCBI36 |
| NG_007955.1:g.5026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.3:c.-147C>T | ENSP00000358903.3:n.-147C>T | |
| NM_000102.3:c.-147C>T | NP_000093.1:n.-147C>T |