Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797642A>G , CM000678.2:g.8797642A>G | GRCh38 |
| NC_000016.9:g.8891499A>G , CM000678.1:g.8891499A>G | GRCh37 |
| NC_000016.8:g.8799000A>G | NCBI36 |
| NG_009209.1:g.4830A>G | |
| NG_033146.1:g.5007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.6:c.-28T>C (TMEM186) | ENSP00000331640.6:n.-28T>C | |
| ENST00000564869.1:n.1T>C (TMEM186) | ||
| ENST00000566983.5:c.-15-4157A>G (PMM2) | ENSP00000457956.1:n.-15-4157A>G | |
| NM_015421.3:c.-28T>C (TMEM186) | NP_056236.2:n.-28T>C |