Linked Data
ClinVar Variation Id:
7081
ClinVar RCV Id:
RCV000007497
dbSNP Id:
rs12740374
gnomAD v2:
1-109817590-G-T
gnomAD v3:
1-109274968-G-T
gnomAD v4:
1-109274968-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109274968G>T , CM000663.2:g.109274968G>T | GRCh38 |
| NC_000001.10:g.109817590G>T , CM000663.1:g.109817590G>T | GRCh37 |
| NC_000001.9:g.109619113G>T | NCBI36 |
| NG_052669.1:g.30264G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271332.4:c.*919G>T MANE Select | ENSP00000271332.3:n.*919G>T | |
| ENST00000271332.3:c.*919G>T | ENSP00000271332.3:n.*919G>T | |
| ENST00000498157.1:n.3041G>T | ||
| NM_001408.2:c.*919G>T | NP_001399.1:n.*919G>T | |
| XM_005270580.3:c.*786G>T | XP_005270637.1:n.*786G>T | |
| NM_001408.3:c.*919G>T MANE Select | NP_001399.1:n.*919G>T |