Linked Data
ClinVar Variation Id:
347806
dbSNP Id:
rs369606098
ExAC:
4:155506596 A / C
gnomAD v2:
4-155506596-A-C
gnomAD v3:
4-154585444-A-C
gnomAD v4:
4-154585444-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154585444A>C , CM000666.2:g.154585444A>C | GRCh38 |
| NC_000004.11:g.155506596A>C , CM000666.1:g.155506596A>C | GRCh37 |
| NC_000004.10:g.155726046A>C | NCBI36 |
| NG_008832.1:g.10302T>G , LRG_557:g.10302T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.1891+94T>G | ENSP00000498441.1:n.1891+94T>G | |
| ENST00000403106.8:c.*50T>G MANE Select | ENSP00000385981.3:n.*50T>G | |
| ENST00000651975.1:c.1891+94T>G | ENSP00000498441.1:n.1891+94T>G | |
| ENST00000302053.7:c.1891+94T>G | ENSP00000306361.3:n.1891+94T>G | |
| ENST00000403106.7:c.*50T>G | ENSP00000385981.3:n.*50T>G | |
| ENST00000622532.1:c.*40T>G | ENSP00000478487.1:n.*40T>G | |
| NM_000508.3:c.1891+94T>G , LRG_557t1:c.1891+94T>G | NP_000499.1:n.1891+94T>G | |
| NM_021871.2:c.*50T>G , LRG_557t2:c.*50T>G | NP_068657.1:n.*50T>G | |
| NM_000508.4:c.1891+94T>G | NP_000499.1:n.1891+94T>G | |
| NM_021871.3:c.*50T>G | NP_068657.1:n.*50T>G | |
| NM_021871.4:c.*50T>G MANE Select | NP_068657.1:n.*50T>G | |
| NM_000508.5:c.1891+94T>G | NP_000499.1:n.1891+94T>G |