Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230709809G>A , CM000663.2:g.230709809G>A | GRCh38 |
| NC_000001.10:g.230845555G>A , CM000663.1:g.230845555G>A | GRCh37 |
| NC_000001.9:g.228912178G>A | NCBI36 |
| NG_008836.1:g.9782C>T | |
| NG_008836.2:g.9782C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.4:c.856+186C>T | ENSP00000355627.4:p.= | |
| NM_000029.3:c.856+186C>T | NP_000020.1:p.= | |
| NM_000029.4:c.856+186C>T | NP_000020.1:p.= | |
| NM_001382817.3:c.829+186C>T | NP_001369746.2:p.= | |
| NM_001384479.1:c.829+186C>T MANE Select | NP_001371408.1:p.= |