Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797613A>C , CM000678.2:g.8797613A>C | GRCh38 |
| NC_000016.9:g.8891470A>C , CM000678.1:g.8891470A>C | GRCh37 |
| NC_000016.8:g.8798971A>C | NCBI36 |
| NG_009209.1:g.4801A>C | |
| NG_033146.1:g.5036T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.2T>G (TMEM186) MANE Select | ENSP00000331640.6:p.Met1Arg | |
| ENST00000333050.6:c.2T>G (TMEM186) | ENSP00000331640.6:p.Met1Arg | |
| ENST00000564869.1:n.30T>G (TMEM186) | ||
| ENST00000566983.5:c.-15-4186A>C (PMM2) | ENSP00000457956.1:n.-15-4186A>C | |
| NM_015421.3:c.2T>G (TMEM186) | NP_056236.2:p.Met1Arg | |
| NM_015421.4:c.2T>G (TMEM186) MANE Select | NP_056236.2:p.Met1Arg |