Linked Data
ClinVar Variation Id:
52164
dbSNP Id:
rs189026060
gnomAD v2:
13-32890746-C-G
gnomAD v3:
13-32316609-C-G
gnomAD v4:
13-32316609-C-G
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32316609C>G , CM000675.2:g.32316609C>G | GRCh38 |
| NC_000013.10:g.32890746C>G , CM000675.1:g.32890746C>G | GRCh37 |
| NC_000013.9:g.31788746C>G | NCBI36 |
| NG_012772.3:g.6130C>G , LRG_293:g.6130C>G | |
| NG_017006.1:g.346G>C | |
| NG_017006.2:g.3755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.67+82C>G | ENSP00000434898.2:n.67+82C>G | |
| ENST00000528762.2:c.67+82C>G | ENSP00000433168.2:n.67+82C>G | |
| ENST00000530893.7:c.-303+86C>G | ENSP00000499438.2:n.-303+86C>G | |
| ENST00000665585.2:c.67+82C>G | ENSP00000499570.2:n.67+82C>G | |
| ENST00000666593.2:c.67+82C>G | ENSP00000499256.2:n.67+82C>G | |
| ENST00000700202.2:c.67+82C>G | ENSP00000514856.2:n.67+82C>G | |
| ENST00000700199.1:n.273C>G | ||
| ENST00000700200.1:n.191+82C>G | ||
| ENST00000700201.1:c.67+82C>G | ENSP00000514855.1:n.67+82C>G | |
| ENST00000380152.8:c.67+82C>G MANE Select | ENSP00000369497.3:n.67+82C>G | |
| ENST00000544455.6:c.67+82C>G | ENSP00000439902.1:n.67+82C>G | |
| ENST00000614259.2:c.67+82C>G | ENSP00000506251.1:n.67+82C>G | |
| ENST00000680887.1:c.67+82C>G | ENSP00000505508.1:n.67+82C>G | |
| ENST00000380152.7:c.67+82C>G | ENSP00000369497.3:n.67+82C>G | |
| ENST00000530893.6:n.265+86C>G | ||
| ENST00000544455.5:c.67+82C>G | ENSP00000439902.1:n.67+82C>G | |
| ENST00000614259.1:n.67+82C>G | ||
| NM_000059.3:c.67+82C>G , LRG_293t1:c.67+82C>G | NP_000050.2:n.67+82C>G | |
| XM_011535203.1:c.67+82C>G | XP_011533505.1:n.67+82C>G | |
| XM_011535204.1:c.67+82C>G | XP_011533506.1:n.67+82C>G | |
| XM_011535205.1:c.67+82C>G | XP_011533507.1:n.67+82C>G | |
| NM_000059.4:c.67+82C>G MANE Select | NP_000050.3:n.67+82C>G |