Linked Data
ClinVar Variation Id:
910631
dbSNP Id:
rs1390547132
gnomAD v2:
7-140624515-G-A
gnomAD v3:
7-140924715-G-A
gnomAD v4:
7-140924715-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140924715G>A , CM000669.2:g.140924715G>A | GRCh38 |
| NC_000007.13:g.140624515G>A , CM000669.1:g.140624515G>A | GRCh37 |
| NC_000007.12:g.140270984G>A | NCBI36 |
| NG_007873.3:g.5050C>T , LRG_299:g.5050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.-12C>T MANE Select | ENSP00000493543.1:n.-12C>T | |
| ENST00000288602.11:c.-12C>T | ENSP00000288602.7:n.-12C>T | |
| ENST00000469930.2:c.-12C>T | ENSP00000495858.1:n.-12C>T | |
| ENST00000496384.7:c.-12C>T | ENSP00000419060.2:n.-12C>T | |
| ENST00000642272.1:n.12C>T | ||
| ENST00000644969.2:c.-12C>T MANE Plus Clinical | ENSP00000496776.1:n.-12C>T | |
| ENST00000646891.1:c.-12C>T | ENSP00000493543.1:n.-12C>T | |
| ENST00000288602.10:c.-12C>T | ENSP00000288602.6:n.-12C>T | |
| NM_004333.4:c.-12C>T , LRG_299t1:c.-12C>T | NP_004324.2:n.-12C>T | |
| NM_001354609.1:c.-12C>T | NP_001341538.1:n.-12C>T | |
| NM_004333.5:c.-12C>T | NP_004324.2:n.-12C>T | |
| NR_148928.1:n.214C>T | ||
| NM_001354609.2:c.-12C>T | NP_001341538.1:n.-12C>T | |
| NM_001374244.1:c.-12C>T | NP_001361173.1:n.-12C>T | |
| NM_001374258.1:c.-12C>T MANE Plus Clinical | NP_001361187.1:n.-12C>T | |
| NM_004333.6:c.-12C>T MANE Select | NP_004324.2:n.-12C>T | |
| NM_001378467.1:c.-12C>T | NP_001365396.1:n.-12C>T | |
| NM_001378468.1:c.-12C>T | NP_001365397.1:n.-12C>T | |
| NM_001378469.1:c.-12C>T | NP_001365398.1:n.-12C>T | |
| NM_001378470.1:c.-12C>T | NP_001365399.1:n.-12C>T | |
| NM_001378471.1:c.-12C>T | NP_001365400.1:n.-12C>T | |
| NM_001378474.1:c.-12C>T | NP_001365403.1:n.-12C>T | |
| NM_001378475.1:c.-12C>T | NP_001365404.1:n.-12C>T |