Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797648C>T , CM000678.2:g.8797648C>T | GRCh38 |
| NC_000016.9:g.8891505C>T , CM000678.1:g.8891505C>T | GRCh37 |
| NC_000016.8:g.8799006C>T | NCBI36 |
| NG_009209.1:g.4836C>T | |
| NG_033146.1:g.5001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.6:c.-34G>A (TMEM186) | ENSP00000331640.6:n.-34G>A | |
| ENST00000566983.5:c.-15-4151C>T (PMM2) | ENSP00000457956.1:n.-15-4151C>T | |
| NM_015421.3:c.-34G>A (TMEM186) | NP_056236.2:n.-34G>A |