Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797644C>A , CM000678.2:g.8797644C>A | GRCh38 |
| NC_000016.9:g.8891501C>A , CM000678.1:g.8891501C>A | GRCh37 |
| NC_000016.8:g.8799002C>A | NCBI36 |
| NG_009209.1:g.4832C>A | |
| NG_033146.1:g.5005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.6:c.-30G>T (TMEM186) | ENSP00000331640.6:n.-30G>T | |
| ENST00000566983.5:c.-15-4155C>A (PMM2) | ENSP00000457956.1:n.-15-4155C>A | |
| NM_015421.3:c.-30G>T (TMEM186) | NP_056236.2:n.-30G>T |