Linked Data
ClinVar Variation Id:
1505977
ClinVar RCV Id:
RCV002035878
dbSNP Id:
rs199678034
ExAC:
2:69553299 G / A
gnomAD v2:
2-69553299-G-A
gnomAD v3:
2-69326167-G-A
gnomAD v4:
2-69326167-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69326167G>A , CM000664.2:g.69326167G>A | GRCh38 |
| NC_000002.11:g.69553299G>A , CM000664.1:g.69553299G>A | GRCh37 |
| NC_000002.10:g.69406803G>A | NCBI36 |
| NG_029542.1:g.66084C>T , LRG_787:g.66084C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357308.9:c.*22C>T MANE Select | ENSP00000349860.4:n.*22C>T | |
| ENST00000674438.1:c.*22C>T | ENSP00000501469.1:n.*22C>T | |
| ENST00000674507.1:c.*22C>T | ENSP00000501332.1:n.*22C>T | |
| ENST00000357308.8:c.*22C>T | ENSP00000349860.4:n.*22C>T | |
| ENST00000361060.5:c.*22C>T | ENSP00000354347.4:n.*22C>T | |
| NM_001244710.1:c.*22C>T , LRG_787t1:c.*22C>T | NP_001231639.1:n.*22C>T | |
| NM_002056.3:c.*22C>T | NP_002047.2:n.*22C>T | |
| XM_017003801.1:c.*22C>T | XP_016859290.1:n.*22C>T | |
| XM_017003802.2:c.*22C>T | XP_016859291.1:n.*22C>T | |
| NM_001244710.2:c.*22C>T MANE Select | NP_001231639.1:n.*22C>T | |
| NM_002056.4:c.*22C>T | NP_002047.2:n.*22C>T |