Linked Data
dbSNP Id:
rs555268859
ExAC:
16:8891465 T / C
gnomAD v2:
16-8891465-T-C
gnomAD v3:
16-8797608-T-C
gnomAD v4:
16-8797608-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797608T>C , CM000678.2:g.8797608T>C | GRCh38 |
| NC_000016.9:g.8891465T>C , CM000678.1:g.8891465T>C | GRCh37 |
| NC_000016.8:g.8798966T>C | NCBI36 |
| NG_009209.1:g.4796T>C | |
| NG_033146.1:g.5041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+4A>G (TMEM186) MANE Select | ENSP00000331640.6:n.3+4A>G | |
| ENST00000333050.6:c.3+4A>G (TMEM186) | ENSP00000331640.6:n.3+4A>G | |
| ENST00000564869.1:n.31+4A>G (TMEM186) | ||
| ENST00000566983.5:c.-15-4191T>C (PMM2) | ENSP00000457956.1:n.-15-4191T>C | |
| NM_015421.3:c.3+4A>G (TMEM186) | NP_056236.2:n.3+4A>G | |
| NM_015421.4:c.3+4A>G (TMEM186) MANE Select | NP_056236.2:n.3+4A>G |