Linked Data
dbSNP Id:
rs2068578520
gnomAD v3:
20-63350568-C-T
gnomAD v4:
20-63350568-C-T
MyVariant Identifiers:
chr20:g.61981920C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350568C>T , CM000682.2:g.63350568C>T | GRCh38 |
| NC_000020.10:g.61981920C>T , CM000682.1:g.61981920C>T | GRCh37 |
| NC_000020.9:g.61452364C>T | NCBI36 |
| NG_011931.1:g.15776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.843G>A MANE Select | ENSP00000359285.4:p.Val281= | |
| ENST00000370263.8:c.843G>A | ENSP00000359285.4:p.Val281= | |
| ENST00000463705.5:n.1491G>A | ||
| ENST00000467563.3:n.913G>A | ||
| ENST00000498043.6:c.867G>A | ||
| ENST00000615287.4:c.630G>A | ENSP00000483388.1:p.Val210= | |
| ENST00000627000.1:c.*532G>A | ENSP00000486914.1:n.*532G>A | |
| ENST00000630240.1:n.564G>A | ||
| NM_000744.6:c.843G>A | NP_000735.1:p.Val281= | |
| NM_001256573.1:c.315G>A | NP_001243502.1:p.Val105= | |
| NR_046317.1:n.1099G>A | ||
| XM_011528524.1:c.630G>A | XP_011526826.1:p.Val210= | |
| XM_017027625.2:c.315G>A | XP_016883114.1:p.Val105= | |
| XM_024451822.1:c.315G>A | XP_024307590.1:p.Val105= | |
| NM_001256573.2:c.315G>A | NP_001243502.1:p.Val105= | |
| NR_046317.2:n.1052G>A | ||
| NM_000744.7:c.843G>A MANE Select | NP_000735.1:p.Val281= |