Linked Data
ClinVar Variation Id:
1594795
ClinVar RCV Id:
RCV002108090
dbSNP Id:
rs374969713
ExAC:
17:7915447 C / T
gnomAD v2:
17-7915447-C-T
gnomAD v3:
17-8012129-C-T
gnomAD v4:
17-8012129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012129C>T , CM000679.2:g.8012129C>T | GRCh38 |
| NC_000017.10:g.7915447C>T , CM000679.1:g.7915447C>T | GRCh37 |
| NC_000017.9:g.7856172C>T | NCBI36 |
| NG_009092.1:g.14460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1750-15C>T MANE Select | ENSP00000254854.4:n.1750-15C>T | |
| ENST00000254854.4:c.1750-15C>T | ENSP00000254854.4:n.1750-15C>T | |
| NM_000180.3:c.1750-15C>T | NP_000171.1:n.1750-15C>T | |
| XM_011523816.1:c.1750-15C>T | XP_011522118.1:n.1750-15C>T | |
| NM_000180.4:c.1750-15C>T MANE Select | NP_000171.1:n.1750-15C>T |