Linked Data
ClinVar Variation Id:
292699
ClinVar RCV Id:
RCV000313879
dbSNP Id:
rs544123058
gnomAD v3:
1-154272574-A-T
gnomAD v4:
1-154272574-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154272574A>T , CM000663.2:g.154272574A>T | GRCh38 |
| NC_000001.10:g.154245050A>T , CM000663.1:g.154245050A>T | GRCh37 |
| NC_000001.9:g.152511674A>T | NCBI36 |
| NG_007369.1:g.5012A>T , LRG_64:g.5012A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531435.6:n.21A>T | ||
| ENST00000696932.1:c.-71-79A>T | ENSP00000512979.1:n.-71-79A>T | |
| ENST00000328703.11:c.-150A>T | ENSP00000329002.7:n.-150A>T | |
| NM_001018837.1:c.-150A>T | NP_001018238.1:n.-150A>T | |
| NM_006118.3:c.-150A>T , LRG_64t1:c.-150A>T | NP_006109.2:n.-150A>T |