Linked Data
ClinVar Variation Id:
2717759
ClinVar RCV Id:
RCV003522232
dbSNP Id:
rs781150754
gnomAD v4:
2-189005334-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005334A>T , CM000664.2:g.189005334A>T | GRCh38 |
| NC_000002.11:g.189870060A>T , CM000664.1:g.189870060A>T | GRCh37 |
| NC_000002.10:g.189578305A>T | NCBI36 |
| NG_007404.1:g.35962A>T , LRG_3:g.35962A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2833-16A>T | ENSP00000415346.2:n.2833-16A>T | |
| ENST00000304636.9:c.2932-16A>T MANE Select | ENSP00000304408.4:n.2932-16A>T | |
| ENST00000304636.7:c.2932-16A>T | ENSP00000304408.3:n.2932-16A>T | |
| ENST00000317840.9:c.2527+2298A>T | ENSP00000315243.6:n.2527+2298A>T | |
| NM_000090.3:c.2932-16A>T , LRG_3t1:c.2932-16A>T | NP_000081.1:n.2932-16A>T | |
| NM_000090.4:c.2932-16A>T MANE Select | NP_000081.2:n.2932-16A>T |