Linked Data
ClinVar Variation Id:
125991
dbSNP Id:
rs11571574
gnomAD v2:
13-32890726-T-G
gnomAD v3:
13-32316589-T-G
gnomAD v4:
13-32316589-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32316589T>G , CM000675.2:g.32316589T>G | GRCh38 |
| NC_000013.10:g.32890726T>G , CM000675.1:g.32890726T>G | GRCh37 |
| NC_000013.9:g.31788726T>G | NCBI36 |
| NG_012772.3:g.6110T>G , LRG_293:g.6110T>G | |
| NG_017006.1:g.366A>C | |
| NG_017006.2:g.3775A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.67+62T>G | ENSP00000434898.2:n.67+62T>G | |
| ENST00000528762.2:c.67+62T>G | ENSP00000433168.2:n.67+62T>G | |
| ENST00000530893.7:c.-303+66T>G | ENSP00000499438.2:n.-303+66T>G | |
| ENST00000665585.2:c.67+62T>G | ENSP00000499570.2:n.67+62T>G | |
| ENST00000666593.2:c.67+62T>G | ENSP00000499256.2:n.67+62T>G | |
| ENST00000700202.2:c.67+62T>G | ENSP00000514856.2:n.67+62T>G | |
| ENST00000700199.1:n.253T>G | ||
| ENST00000700200.1:n.191+62T>G | ||
| ENST00000700201.1:c.67+62T>G | ENSP00000514855.1:n.67+62T>G | |
| ENST00000380152.8:c.67+62T>G MANE Select | ENSP00000369497.3:n.67+62T>G | |
| ENST00000544455.6:c.67+62T>G | ENSP00000439902.1:n.67+62T>G | |
| ENST00000614259.2:c.67+62T>G | ENSP00000506251.1:n.67+62T>G | |
| ENST00000680887.1:c.67+62T>G | ENSP00000505508.1:n.67+62T>G | |
| ENST00000380152.7:c.67+62T>G | ENSP00000369497.3:n.67+62T>G | |
| ENST00000530893.6:n.265+66T>G | ||
| ENST00000544455.5:c.67+62T>G | ENSP00000439902.1:n.67+62T>G | |
| ENST00000614259.1:n.67+62T>G | ||
| NM_000059.3:c.67+62T>G , LRG_293t1:c.67+62T>G | NP_000050.2:n.67+62T>G | |
| XM_011535203.1:c.67+62T>G | XP_011533505.1:n.67+62T>G | |
| XM_011535204.1:c.67+62T>G | XP_011533506.1:n.67+62T>G | |
| XM_011535205.1:c.67+62T>G | XP_011533507.1:n.67+62T>G | |
| NM_000059.4:c.67+62T>G MANE Select | NP_000050.3:n.67+62T>G |