Linked Data
ClinVar Variation Id:
485427
dbSNP Id:
rs1283205861
gnomAD v2:
13-32950804-T-G
gnomAD v4:
13-32376667-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376667T>G , CM000675.2:g.32376667T>G | GRCh38 |
| NC_000013.10:g.32950804T>G , CM000675.1:g.32950804T>G | GRCh37 |
| NC_000013.9:g.31848804T>G | NCBI36 |
| NG_012772.3:g.66188T>G , LRG_293:g.66188T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8633-3T>G | ENSP00000434898.2:n.8633-3T>G | |
| ENST00000528762.2:c.8697-3T>G | ENSP00000433168.2:n.8697-3T>G | |
| ENST00000530893.7:c.8264-3T>G | ENSP00000499438.2:n.8264-3T>G | |
| ENST00000665585.2:c.*195-3T>G | ENSP00000499570.2:n.*195-3T>G | |
| ENST00000666593.2:c.8633-3T>G | ENSP00000499256.2:n.8633-3T>G | |
| ENST00000700202.2:c.8633-3T>G | ENSP00000514856.2:n.8633-3T>G | |
| ENST00000700202.1:c.1100-3T>G | ENSP00000514856.1:n.1100-3T>G | |
| ENST00000700203.1:n.757T>G | ||
| ENST00000380152.8:c.8633-3T>G MANE Select | ENSP00000369497.3:n.8633-3T>G | |
| ENST00000544455.6:c.8633-3T>G | ENSP00000439902.1:n.8633-3T>G | |
| ENST00000614259.2:c.8641-3T>G | ENSP00000506251.1:n.8641-3T>G | |
| ENST00000665585.1:c.1511-3T>G | ||
| ENST00000680887.1:c.8633-3T>G | ENSP00000505508.1:n.8633-3T>G | |
| ENST00000380152.7:c.8633-3T>G | ENSP00000369497.3:n.8633-3T>G | |
| ENST00000528762.1:c.195-3T>G | ENSP00000433168.1:n.195-3T>G | |
| ENST00000544455.5:c.8633-3T>G | ENSP00000439902.1:n.8633-3T>G | |
| NM_000059.3:c.8633-3T>G , LRG_293t1:c.8633-3T>G | NP_000050.2:n.8633-3T>G | |
| XM_011535203.1:c.8633-3T>G | XP_011533505.1:n.8633-3T>G | |
| XM_011535204.1:c.8537-3T>G | XP_011533506.1:n.8537-3T>G | |
| XM_011535205.1:c.8633-3T>G | XP_011533507.1:n.8633-3T>G | |
| NM_000059.4:c.8633-3T>G MANE Select | NP_000050.3:n.8633-3T>G |