Linked Data
dbSNP Id:
rs1039802069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.129161994T>C , CM000674.2:g.129161994T>C | GRCh38 |
| NC_000012.11:g.129646539T>C , CM000674.1:g.129646539T>C | GRCh37 |
| NC_000012.10:g.128212492T>C | NCBI36 |
| NG_052808.1:g.746674A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422113.7:c.1443+47526A>G MANE Select | ENSP00000408581.2:n.1443+47526A>G | |
| ENST00000422113.6:c.1443+47526A>G | ENSP00000408581.2:n.1443+47526A>G | |
| ENST00000619366.1:c.1383+47526A>G | ENSP00000478824.1:n.1383+47526A>G | |
| NM_133448.2:c.1443+47526A>G | NP_597705.2:n.1443+47526A>G | |
| XM_011537894.1:c.1296+47526A>G | XP_011536196.1:n.1296+47526A>G | |
| NM_133448.3:c.1443+47526A>G MANE Select | NP_597705.2:n.1443+47526A>G |