Linked Data
ClinVar Variation Id:
209601
dbSNP Id:
rs9562605
gnomAD v2:
13-32890026-C-T
gnomAD v3:
13-32315889-C-T
gnomAD v4:
13-32315889-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315889C>T , CM000675.2:g.32315889C>T | GRCh38 |
| NC_000013.10:g.32890026C>T , CM000675.1:g.32890026C>T | GRCh37 |
| NC_000013.9:g.31788026C>T | NCBI36 |
| NG_012772.3:g.5410C>T , LRG_293:g.5410C>T | |
| NG_017006.1:g.1066G>A | |
| NG_017006.2:g.4475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.-40+222C>T | ENSP00000434898.2:n.-40+222C>T | |
| ENST00000528762.2:c.-40+222C>T | ENSP00000433168.2:n.-40+222C>T | |
| ENST00000530893.7:c.-405+222C>T | ENSP00000499438.2:n.-405+222C>T | |
| ENST00000665585.2:c.-40+222C>T | ENSP00000499570.2:n.-40+222C>T | |
| ENST00000666593.2:c.-40+222C>T | ENSP00000499256.2:n.-40+222C>T | |
| ENST00000700202.2:c.-40+222C>T | ENSP00000514856.2:n.-40+222C>T | |
| ENST00000700199.1:n.85+222C>T | ||
| ENST00000700200.1:n.85+222C>T | ||
| ENST00000700201.1:c.-40+222C>T | ENSP00000514855.1:n.-40+222C>T | |
| ENST00000380152.8:c.-40+222C>T MANE Select | ENSP00000369497.3:n.-40+222C>T | |
| ENST00000544455.6:c.-39-533C>T | ENSP00000439902.1:n.-39-533C>T | |
| ENST00000380152.7:c.-40+222C>T | ENSP00000369497.3:n.-40+222C>T | |
| ENST00000530893.6:n.163+222C>T | ||
| ENST00000544455.5:c.-40+222C>T | ENSP00000439902.1:n.-40+222C>T | |
| NM_000059.3:c.-40+222C>T , LRG_293t1:c.-40+222C>T | NP_000050.2:n.-40+222C>T | |
| XM_011535203.1:c.-39-533C>T | XP_011533505.1:n.-39-533C>T | |
| XM_011535204.1:c.-40+222C>T | XP_011533506.1:n.-40+222C>T | |
| XM_011535205.1:c.-40+222C>T | XP_011533507.1:n.-40+222C>T | |
| NM_000059.4:c.-40+222C>T MANE Select | NP_000050.3:n.-40+222C>T |