Linked Data
ClinVar Variation Id:
1391107
ClinVar RCV Id:
RCV001910914
dbSNP Id:
rs1009422076
gnomAD v2:
20-10625548-G-A
gnomAD v3:
20-10644900-G-A
gnomAD v4:
20-10644900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644900G>A , CM000682.2:g.10644900G>A | GRCh38 |
| NC_000020.10:g.10625548G>A , CM000682.1:g.10625548G>A | GRCh37 |
| NC_000020.9:g.10573548G>A | NCBI36 |
| NG_007496.1:g.34147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2307C>T MANE Select | ENSP00000254958.4:p.Val769= | |
| ENST00000617965.2:n.2896C>T | ||
| ENST00000254958.9:c.2307C>T | ENSP00000254958.4:p.Val769= | |
| ENST00000423891.6:n.2173C>T | ||
| ENST00000488480.2:n.704C>T | ||
| NM_000214.2:c.2307C>T | NP_000205.1:p.Val769= | |
| NM_000214.3:c.2307C>T MANE Select | NP_000205.1:p.Val769= |