Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797647A= , CM000678.2:g.8797647A= | GRCh38 |
| NC_000016.9:g.8891504A= , CM000678.1:g.8891504A= | GRCh37 |
| NC_000016.8:g.8799005A= | NCBI36 |
| NG_009209.1:g.4835A= | |
| NG_033146.1:g.5002T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.6:c.-33T= (TMEM186) | ENSP00000331640.6:n.-33T= | |
| ENST00000566983.5:c.-15-4152A= (PMM2) | ENSP00000457956.1:n.-15-4152A= | |
| NM_015421.3:c.-33T= (TMEM186) | NP_056236.2:n.-33T= |