Linked Data
ClinVar Variation Id:
338895
dbSNP Id:
rs34103538
ExAC:
20:56140726 A / C
gnomAD v2:
20-56140726-A-C
gnomAD v3:
20-57565670-A-C
gnomAD v4:
20-57565670-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565670A>C , CM000682.2:g.57565670A>C | GRCh38 |
| NC_000020.10:g.56140726A>C , CM000682.1:g.56140726A>C | GRCh37 |
| NC_000020.9:g.55574132A>C | NCBI36 |
| NG_008205.1:g.9590A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1735A>C MANE Select | ENSP00000319814.4:p.Ser579Arg | |
| ENST00000319441.5:c.1735A>C | ENSP00000319814.4:p.Ser579Arg | |
| ENST00000467047.1:n.4377A>C | ||
| NM_002591.3:c.1735A>C | NP_002582.3:p.Ser579Arg | |
| XM_011528839.1:c.1339A>C | XP_011527141.1:p.Ser447Arg | |
| XM_024451888.1:c.1339A>C | XP_024307656.1:p.Ser447Arg | |
| NM_002591.4:c.1735A>C MANE Select | NP_002582.3:p.Ser579Arg |