Linked Data
dbSNP Id:
rs1220542643
gnomAD v2:
11-47604043-A-G
gnomAD v3:
11-47582491-A-G
gnomAD v4:
11-47582491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582491A>G , CM000673.2:g.47582491A>G | GRCh38 |
| NC_000011.9:g.47604043A>G , CM000673.1:g.47604043A>G | GRCh37 |
| NC_000011.8:g.47560619A>G | NCBI36 |
| NG_011946.1:g.8482A>G | |
| NG_011946.2:g.8482A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.627+23A>G MANE Select | ENSP00000263774.4:n.627+23A>G | |
| ENST00000531351.2:n.1822+23A>G | ||
| ENST00000677462.1:n.3101+23A>G | ||
| ENST00000678975.1:n.2884+23A>G | ||
| ENST00000263774.8:c.627+23A>G | ENSP00000263774.4:n.627+23A>G | |
| ENST00000525212.1:n.282+23A>G | ||
| ENST00000525378.5:n.565+23A>G | ||
| ENST00000527178.1:n.227+23A>G | ||
| ENST00000533507.5:n.1521+23A>G | ||
| NM_004551.2:c.627+23A>G | NP_004542.1:n.627+23A>G | |
| NM_004551.3:c.627+23A>G MANE Select | NP_004542.1:n.627+23A>G |