Linked Data
ClinVar Variation Id:
706810
ClinVar RCV Id:
RCV000877557
dbSNP Id:
rs140531329
ExAC:
3:131220457 G / A
gnomAD v2:
3-131220457-G-A
gnomAD v3:
3-131501613-G-A
gnomAD v4:
3-131501613-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131501613G>A , CM000665.2:g.131501613G>A | GRCh38 |
| NC_000003.11:g.131220457G>A , CM000665.1:g.131220457G>A | GRCh37 |
| NC_000003.10:g.132703147G>A | NCBI36 |
| NG_029207.1:g.6404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264995.8:c.195C>T MANE Select | ENSP00000264995.2:p.Val65= | |
| ENST00000264995.7:c.195C>T | ENSP00000264995.2:p.Val65= | |
| ENST00000425847.6:c.276C>T | ENSP00000398536.2:p.Val92= | |
| ENST00000507669.5:c.-121C>T | ENSP00000422419.1:n.-121C>T | |
| ENST00000510154.1:c.-121C>T | ENSP00000422622.1:n.-121C>T | |
| ENST00000510923.5:n.341C>T | ||
| ENST00000511168.5:c.238C>T | ||
| ENST00000512877.1:c.195C>T | ENSP00000422035.1:p.Val65= | |
| NM_007208.3:c.195C>T | NP_009139.1:p.Val65= | |
| NM_007208.4:c.195C>T MANE Select | NP_009139.1:p.Val65= |