Linked Data
ClinVar Variation Id:
336788
ClinVar RCV Id:
RCV000303844
dbSNP Id:
rs886056232
gnomAD v2:
2-69547807-C-A
gnomAD v3:
2-69320675-C-A
gnomAD v4:
2-69320675-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69320675C>A , CM000664.2:g.69320675C>A | GRCh38 |
| NC_000002.11:g.69547807C>A , CM000664.1:g.69547807C>A | GRCh37 |
| NC_000002.10:g.69401311C>A | NCBI36 |
| NG_029542.1:g.71576G>T , LRG_787:g.71576G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357308.9:c.*5514G>T MANE Select | ENSP00000349860.4:n.*5514G>T | |
| ENST00000357308.8:c.*5514G>T | ENSP00000349860.4:n.*5514G>T | |
| ENST00000361060.5:c.*5514G>T | ENSP00000354347.4:n.*5514G>T | |
| NM_001244710.1:c.*5514G>T , LRG_787t1:c.*5514G>T | NP_001231639.1:n.*5514G>T | |
| NM_002056.3:c.*5514G>T | NP_002047.2:n.*5514G>T | |
| NM_001244710.2:c.*5514G>T MANE Select | NP_001231639.1:n.*5514G>T | |
| NM_002056.4:c.*5514G>T | NP_002047.2:n.*5514G>T |