Linked Data
dbSNP Id:
rs764478384
ExAC:
16:8891456 C / A
gnomAD v2:
16-8891456-C-A
gnomAD v4:
16-8797599-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797599C>A , CM000678.2:g.8797599C>A | GRCh38 |
| NC_000016.9:g.8891456C>A , CM000678.1:g.8891456C>A | GRCh37 |
| NC_000016.8:g.8798957C>A | NCBI36 |
| NG_009209.1:g.4787C>A | |
| NG_033146.1:g.5050G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+13G>T (TMEM186) MANE Select | ENSP00000331640.6:n.3+13G>T | |
| ENST00000333050.6:c.3+13G>T (TMEM186) | ENSP00000331640.6:n.3+13G>T | |
| ENST00000564869.1:n.31+13G>T (TMEM186) | ||
| ENST00000566983.5:c.-15-4200C>A (PMM2) | ENSP00000457956.1:n.-15-4200C>A | |
| NM_015421.3:c.3+13G>T (TMEM186) | NP_056236.2:n.3+13G>T | |
| NM_015421.4:c.3+13G>T (TMEM186) MANE Select | NP_056236.2:n.3+13G>T |