Linked Data
ClinVar Variation Id:
913478
ClinVar RCV Id:
RCV001167109
dbSNP Id:
rs964056946
gnomAD v2:
X-53405110-T-C
gnomAD v3:
X-53378189-T-C
gnomAD v4:
X-53378189-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53378189T>C , CM000685.2:g.53378189T>C | GRCh38 |
| NC_000023.10:g.53405110T>C , CM000685.1:g.53405110T>C | GRCh37 |
| NC_000023.9:g.53421835T>C | NCBI36 |
| NG_006988.2:g.49482A>G , LRG_773:g.49482A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.*1914A>G MANE Select | ENSP00000323421.3:n.*1914A>G | |
| ENST00000675504.1:c.*1914A>G | ENSP00000502524.1:n.*1914A>G | |
| ENST00000322213.8:c.*1914A>G | ENSP00000323421.3:n.*1914A>G | |
| ENST00000375340.10:c.*1914A>G | ENSP00000364489.7:n.*1914A>G | |
| NM_001281463.1:c.*1914A>G , LRG_773t1:c.*1914A>G | NP_001268392.1:n.*1914A>G | |
| NM_006306.3:c.*1914A>G , LRG_773t2:c.*1914A>G | NP_006297.2:n.*1914A>G | |
| NM_006306.4:c.*1914A>G MANE Select | NP_006297.2:n.*1914A>G |