Linked Data
ClinVar Variation Id:
728139
ClinVar RCV Id:
RCV000902563
dbSNP Id:
rs147306328
ExAC:
1:156261200 C / T
gnomAD v2:
1-156261200-C-T
gnomAD v3:
1-156291409-C-T
gnomAD v4:
1-156291409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156291409C>T , CM000663.2:g.156291409C>T | GRCh38 |
| NC_000001.10:g.156261200C>T , CM000663.1:g.156261200C>T | GRCh37 |
| NC_000001.9:g.154527824C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405535.3:c.996C>T (TMEM79) MANE Select | ENSP00000384748.2:p.Ala332= | |
| ENST00000647767.1:c.*159-303G>A (GLMP) | ENSP00000497576.1:n.*159-303G>A | |
| ENST00000295694.9:c.996C>T (TMEM79) | ENSP00000295694.5:p.Ala332= | |
| ENST00000357501.6:c.280C>T (TMEM79) | ENSP00000350100.2:p.Arg94Cys | |
| ENST00000405535.2:c.996C>T (TMEM79) | ENSP00000384748.2:p.Ala332= | |
| ENST00000456810.1:c.280C>T (TMEM79) | ENSP00000394736.1:p.Arg94Cys | |
| ENST00000461597.1:c.387-1049G>A (GLMP) | ENSP00000476260.1:n.387-1049G>A | |
| ENST00000463670.5:n.913C>T (TMEM79) | ||
| ENST00000472870.5:c.*221-303G>A (GLMP) | ENSP00000477180.1:n.*221-303G>A | |
| ENST00000480968.1:n.98G>A (GLMP) | ||
| ENST00000485135.1:n.223C>T (TMEM79) | ||
| ENST00000495881.1:n.1408C>T (TMEM79) | ||
| ENST00000497831.1:n.142G>A (GLMP) | ||
| NM_032323.2:c.996C>T (TMEM79) | NP_115699.1:p.Ala332= | |
| NR_026678.1:n.1192C>T (TMEM79) | ||
| NM_001323617.1:c.-286G>A (SMG5) | NP_001310546.1:n.-286G>A | |
| NM_032323.3:c.996C>T (TMEM79) MANE Select | NP_115699.1:p.Ala332= | |
| NM_001323617.2:c.-286G>A (SMG5) | NP_001310546.1:n.-286G>A | |
| NR_026678.2:n.1173C>T (TMEM79) |