Linked Data
ClinVar Variation Id:
1318071
ClinVar RCV Id:
RCV001759372
dbSNP Id:
rs55771537
gnomAD v2:
7-152372935-G-A
gnomAD v3:
7-152675850-G-A
gnomAD v4:
7-152675850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152675850G>A , CM000669.2:g.152675850G>A | GRCh38 |
| NC_000007.13:g.152372935G>A , CM000669.1:g.152372935G>A | GRCh37 |
| NC_000007.12:g.152003868G>A | NCBI36 |
| NG_027988.1:g.5316C>T | |
| NG_027988.2:g.5316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-48+191C>T | ENSP00000513758.1:n.-48+191C>T | |
| ENST00000698507.1:n.107+191C>T | ||
| ENST00000359321.2:c.39+191C>T MANE Select | ENSP00000352271.1:n.39+191C>T | |
| ENST00000359321.1:c.39+191C>T | ENSP00000352271.1:n.39+191C>T | |
| NM_005431.1:c.39+191C>T | NP_005422.1:n.39+191C>T | |
| NM_005431.2:c.39+191C>T MANE Select | NP_005422.1:n.39+191C>T |