Linked Data
ClinVar Variation Id:
336796
ClinVar RCV Id:
RCV000274684
dbSNP Id:
rs560585699
gnomAD v3:
2-69321185-C-T
gnomAD v4:
2-69321185-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69321185C>T , CM000664.2:g.69321185C>T | GRCh38 |
| NC_000002.11:g.69548317C>T , CM000664.1:g.69548317C>T | GRCh37 |
| NC_000002.10:g.69401821C>T | NCBI36 |
| NG_029542.1:g.71066G>A , LRG_787:g.71066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357308.9:c.*5004G>A MANE Select | ENSP00000349860.4:n.*5004G>A | |
| ENST00000357308.8:c.*5004G>A | ENSP00000349860.4:n.*5004G>A | |
| ENST00000361060.5:c.*5004G>A | ENSP00000354347.4:n.*5004G>A | |
| NM_001244710.1:c.*5004G>A , LRG_787t1:c.*5004G>A | NP_001231639.1:n.*5004G>A | |
| NM_002056.3:c.*5004G>A | NP_002047.2:n.*5004G>A | |
| NM_001244710.2:c.*5004G>A MANE Select | NP_001231639.1:n.*5004G>A | |
| NM_002056.4:c.*5004G>A | NP_002047.2:n.*5004G>A |