Linked Data
dbSNP Id:
rs147436106
ExAC:
16:8891471 T / G
gnomAD v2:
16-8891471-T-G
gnomAD v3:
16-8797614-T-G
gnomAD v4:
16-8797614-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797614T>G , CM000678.2:g.8797614T>G | GRCh38 |
| NC_000016.9:g.8891471T>G , CM000678.1:g.8891471T>G | GRCh37 |
| NC_000016.8:g.8798972T>G | NCBI36 |
| NG_009209.1:g.4802T>G | |
| NG_033146.1:g.5035A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.1A>C (TMEM186) MANE Select | ENSP00000331640.6:p.Met1Leu | |
| ENST00000333050.6:c.1A>C (TMEM186) | ENSP00000331640.6:p.Met1Leu | |
| ENST00000564869.1:n.29A>C (TMEM186) | ||
| ENST00000566983.5:c.-15-4185T>G (PMM2) | ENSP00000457956.1:n.-15-4185T>G | |
| NM_015421.3:c.1A>C (TMEM186) | NP_056236.2:p.Met1Leu | |
| NM_015421.4:c.1A>C (TMEM186) MANE Select | NP_056236.2:p.Met1Leu |