Linked Data
dbSNP Id:
rs12520799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135446760T>C , CM000667.2:g.135446760T>C | GRCh38 |
| NC_000005.9:g.134782450T>C , CM000667.1:g.134782450T>C | GRCh37 |
| NC_000005.8:g.134810349T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537858.2:c.*2694A>G (TIFAB) MANE Select | ENSP00000440509.1:n.*2694A>G | |
| ENST00000503143.3:c.349A>G (DCANP1) MANE Select | ENSP00000421871.1:p.Arg117Gly | |
| ENST00000537858.1:c.*2694A>G (TIFAB) | ENSP00000440509.1:n.*2694A>G | |
| NM_130848.2:c.349A>G (DCANP1) | NP_570900.1:p.Arg117Gly | |
| NM_001099221.2:c.*2694A>G (TIFAB) MANE Select | NP_001092691.1:n.*2694A>G | |
| NM_130848.3:c.349A>G (DCANP1) MANE Select | NP_570900.1:p.Arg117Gly |