Linked Data
ClinVar Variation Id:
508298
ClinVar RCV Id:
RCV000607918
dbSNP Id:
rs1229277495
gnomAD v3:
7-152676095-G-A
gnomAD v4:
7-152676095-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676095G>A , CM000669.2:g.152676095G>A | GRCh38 |
| NC_000007.13:g.152373180G>A , CM000669.1:g.152373180G>A | GRCh37 |
| NC_000007.12:g.152004113G>A | NCBI36 |
| NG_027988.1:g.5071C>T | |
| NG_027988.2:g.5071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-102C>T | ENSP00000513758.1:n.-102C>T | |
| ENST00000698507.1:n.53C>T | ||
| ENST00000359321.2:c.-16C>T MANE Select | ENSP00000352271.1:n.-16C>T | |
| ENST00000359321.1:c.-16C>T | ENSP00000352271.1:n.-16C>T | |
| NM_005431.1:c.-16C>T | NP_005422.1:n.-16C>T | |
| NM_005431.2:c.-16C>T MANE Select | NP_005422.1:n.-16C>T |