Linked Data
ClinVar Variation Id:
1980690
ClinVar RCV Id:
RCV002761533
dbSNP Id:
rs772221900
ExAC:
17:7915446 A / T
gnomAD v2:
17-7915446-A-T
gnomAD v4:
17-8012128-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012128A>T , CM000679.2:g.8012128A>T | GRCh38 |
| NC_000017.10:g.7915446A>T , CM000679.1:g.7915446A>T | GRCh37 |
| NC_000017.9:g.7856171A>T | NCBI36 |
| NG_009092.1:g.14459A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1750-16A>T MANE Select | ENSP00000254854.4:n.1750-16A>T | |
| ENST00000254854.4:c.1750-16A>T | ENSP00000254854.4:n.1750-16A>T | |
| NM_000180.3:c.1750-16A>T | NP_000171.1:n.1750-16A>T | |
| XM_011523816.1:c.1750-16A>T | XP_011522118.1:n.1750-16A>T | |
| NM_000180.4:c.1750-16A>T MANE Select | NP_000171.1:n.1750-16A>T |