Linked Data
dbSNP Id:
rs12520799
ExAC:
5:134782450 T / A
gnomAD v2:
5-134782450-T-A
gnomAD v3:
5-135446760-T-A
gnomAD v4:
5-135446760-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135446760T>A , CM000667.2:g.135446760T>A | GRCh38 |
| NC_000005.9:g.134782450T>A , CM000667.1:g.134782450T>A | GRCh37 |
| NC_000005.8:g.134810349T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537858.2:c.*2694A>T (TIFAB) MANE Select | ENSP00000440509.1:n.*2694A>T | |
| ENST00000503143.3:c.349A>T (DCANP1) MANE Select | ENSP00000421871.1:p.Arg117Ter | |
| ENST00000537858.1:c.*2694A>T (TIFAB) | ENSP00000440509.1:n.*2694A>T | |
| NM_130848.2:c.349A>T (DCANP1) | NP_570900.1:p.Arg117Ter | |
| NM_001099221.2:c.*2694A>T (TIFAB) MANE Select | NP_001092691.1:n.*2694A>T | |
| NM_130848.3:c.349A>T (DCANP1) MANE Select | NP_570900.1:p.Arg117Ter |