Linked Data
ClinVar Variation Id:
500328
dbSNP Id:
rs544877858
ExAC:
20:10628700 C / T
gnomAD v2:
20-10628700-C-T
gnomAD v3:
20-10648052-C-T
gnomAD v4:
20-10648052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648052C>T , CM000682.2:g.10648052C>T | GRCh38 |
| NC_000020.10:g.10628700C>T , CM000682.1:g.10628700C>T | GRCh37 |
| NC_000020.9:g.10576700C>T | NCBI36 |
| NG_007496.1:g.30995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.1628G>A MANE Select | ENSP00000254958.4:p.Arg543His | |
| ENST00000617965.2:n.2217G>A | ||
| ENST00000254958.9:c.1628G>A | ENSP00000254958.4:p.Arg543His | |
| ENST00000423891.6:n.1494G>A | ||
| ENST00000620743.1:n.685G>A | ||
| ENST00000622545.1:c.359G>A | ||
| NM_000214.2:c.1628G>A | NP_000205.1:p.Arg543His | |
| NM_000214.3:c.1628G>A MANE Select | NP_000205.1:p.Arg543His |