Linked Data
ClinVar Variation Id:
347906
dbSNP Id:
rs769761582
ExAC:
4:15602848 T / G
gnomAD v2:
4-15602848-T-G
gnomAD v3:
4-15601225-T-G
gnomAD v4:
4-15601225-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15601225T>G , CM000666.2:g.15601225T>G | GRCh38 |
| NC_000004.11:g.15602848T>G , CM000666.1:g.15602848T>G | GRCh37 |
| NC_000004.10:g.15211946T>G | NCBI36 |
| NG_013035.1:g.136360T>G , LRG_697:g.136360T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4711-12T>G | ENSP00000374303.8:n.4711-12T>G | |
| ENST00000424120.6:c.4675-12T>G MANE Select | ENSP00000403465.1:n.4675-12T>G | |
| ENST00000503292.6:c.4675-12T>G | ENSP00000421809.1:n.4675-12T>G | |
| ENST00000506643.5:c.4528-12T>G | ENSP00000422931.2:n.4528-12T>G | |
| ENST00000514039.6:c.781-12T>G | ENSP00000488534.2:n.781-12T>G | |
| ENST00000634028.2:c.4469-12T>G | ENSP00000488669.2:n.4469-12T>G | |
| ENST00000650860.2:c.*2172-12T>G | ENSP00000498775.1:n.*2172-12T>G | |
| ENST00000674945.1:c.4351-12T>G | ENSP00000502333.1:n.4351-12T>G | |
| ENST00000389652.9:c.4173-12T>G | ||
| ENST00000424120.5:c.4675-12T>G | ENSP00000403465.1:n.4675-12T>G | |
| ENST00000503292.5:c.4675-12T>G | ENSP00000421809.1:n.4675-12T>G | |
| ENST00000506643.4:c.2944-12T>G | ||
| ENST00000514039.5:c.291-12T>G | ||
| ENST00000634028.1:c.4481-12T>G | ENSP00000488669.1:n.4481-12T>G | |
| NM_001080522.2:c.4675-12T>G , LRG_697t1:c.4675-12T>G | NP_001073991.2:n.4675-12T>G | |
| XM_005248177.1:c.4675-12T>G | XP_005248234.1:n.4675-12T>G | |
| XM_011513869.1:c.4693-12T>G | XP_011512171.1:n.4693-12T>G | |
| XM_011513870.1:c.4693-12T>G | XP_011512172.1:n.4693-12T>G | |
| XM_011513871.1:c.4546-12T>G | XP_011512173.1:n.4546-12T>G | |
| XM_017008482.1:c.4528-12T>G | XP_016863971.1:n.4528-12T>G | |
| NM_001378615.1:c.4675-12T>G MANE Select | NP_001365544.1:n.4675-12T>G | |
| NM_001378617.1:c.4528-12T>G | NP_001365546.1:n.4528-12T>G |