Linked Data
ClinVar Variation Id:
2490888
ClinVar RCV Id:
RCV003215572
dbSNP Id:
rs374694652
ExAC:
20:56137931 G / A
gnomAD v2:
20-56137931-G-A
gnomAD v3:
20-57562875-G-A
gnomAD v4:
20-57562875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562875G>A , CM000682.2:g.57562875G>A | GRCh38 |
| NC_000020.10:g.56137931G>A , CM000682.1:g.56137931G>A | GRCh37 |
| NC_000020.9:g.55571337G>A | NCBI36 |
| NG_008205.1:g.6795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.586G>A MANE Select | ENSP00000319814.4:p.Val196Met | |
| ENST00000319441.5:c.586G>A | ENSP00000319814.4:p.Val196Met | |
| ENST00000467047.1:n.1796G>A | ||
| ENST00000470051.1:n.42G>A | ||
| ENST00000498194.1:n.528G>A | ||
| NM_002591.3:c.586G>A | NP_002582.3:p.Val196Met | |
| XM_011528839.1:c.190G>A | XP_011527141.1:p.Val64Met | |
| XM_024451888.1:c.190G>A | XP_024307656.1:p.Val64Met | |
| NM_002591.4:c.586G>A MANE Select | NP_002582.3:p.Val196Met |