Linked Data
ClinVar Variation Id:
338879
dbSNP Id:
rs707555
ExAC:
20:56137895 G / C
gnomAD v2:
20-56137895-G-C
gnomAD v3:
20-57562839-G-C
gnomAD v4:
20-57562839-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562839G>C , CM000682.2:g.57562839G>C | GRCh38 |
| NC_000020.10:g.56137895G>C , CM000682.1:g.56137895G>C | GRCh37 |
| NC_000020.9:g.55571301G>C | NCBI36 |
| NG_008205.1:g.6759G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.550G>C MANE Select | ENSP00000319814.4:p.Val184Leu | |
| ENST00000319441.5:c.550G>C | ENSP00000319814.4:p.Val184Leu | |
| ENST00000467047.1:n.1760G>C | ||
| ENST00000470051.1:n.6G>C | ||
| ENST00000498194.1:n.492G>C | ||
| NM_002591.3:c.550G>C | NP_002582.3:p.Val184Leu | |
| XM_011528839.1:c.154G>C | XP_011527141.1:p.Val52Leu | |
| XM_024451888.1:c.154G>C | XP_024307656.1:p.Val52Leu | |
| NM_002591.4:c.550G>C MANE Select | NP_002582.3:p.Val184Leu |