Linked Data
ClinVar Variation Id:
1734060
ClinVar RCV Id:
RCV002348894
dbSNP Id:
rs1446744510
gnomAD v3:
7-152676044-G-T
gnomAD v4:
7-152676044-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676044G>T , CM000669.2:g.152676044G>T | GRCh38 |
| NC_000007.13:g.152373129G>T , CM000669.1:g.152373129G>T | GRCh37 |
| NC_000007.12:g.152004062G>T | NCBI36 |
| NG_027988.1:g.5122C>A | |
| NG_027988.2:g.5122C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-51C>A | ENSP00000513758.1:n.-51C>A | |
| ENST00000698507.1:n.104C>A | ||
| ENST00000359321.2:c.36C>A MANE Select | ENSP00000352271.1:p.Thr12= | |
| ENST00000359321.1:c.36C>A | ENSP00000352271.1:p.Thr12= | |
| NM_005431.1:c.36C>A | NP_005422.1:p.Thr12= | |
| NM_005431.2:c.36C>A MANE Select | NP_005422.1:p.Thr12= |