Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797625C>G , CM000678.2:g.8797625C>G | GRCh38 |
| NC_000016.9:g.8891482C>G , CM000678.1:g.8891482C>G | GRCh37 |
| NC_000016.8:g.8798983C>G | NCBI36 |
| NG_009209.1:g.4813C>G | |
| NG_033146.1:g.5024G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.-11G>C (TMEM186) MANE Select | ENSP00000331640.6:n.-11G>C | |
| ENST00000333050.6:c.-11G>C (TMEM186) | ENSP00000331640.6:n.-11G>C | |
| ENST00000564869.1:n.18G>C (TMEM186) | ||
| ENST00000566983.5:c.-15-4174C>G (PMM2) | ENSP00000457956.1:n.-15-4174C>G | |
| NM_015421.3:c.-11G>C (TMEM186) | NP_056236.2:n.-11G>C | |
| NM_015421.4:c.-11G>C (TMEM186) MANE Select | NP_056236.2:n.-11G>C |