Linked Data
ClinVar Variation Id:
205019
dbSNP Id:
rs764586079
ExAC:
20:61981844 C / T
gnomAD v2:
20-61981844-C-T
gnomAD v4:
20-63350492-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350492C>T , CM000682.2:g.63350492C>T | GRCh38 |
| NC_000020.10:g.61981844C>T , CM000682.1:g.61981844C>T | GRCh37 |
| NC_000020.9:g.61452288C>T | NCBI36 |
| NG_011931.1:g.15852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.919G>A MANE Select | ENSP00000359285.4:p.Gly307Ser | |
| ENST00000370263.8:c.919G>A | ENSP00000359285.4:p.Gly307Ser | |
| ENST00000463705.5:n.1567G>A | ||
| ENST00000467563.3:n.989G>A | ||
| ENST00000498043.6:c.943G>A | ||
| ENST00000615287.4:c.706G>A | ENSP00000483388.1:p.Gly236Ser | |
| ENST00000627000.1:c.*608G>A | ENSP00000486914.1:n.*608G>A | |
| ENST00000630240.1:n.640G>A | ||
| NM_000744.6:c.919G>A | NP_000735.1:p.Gly307Ser | |
| NM_001256573.1:c.391G>A | NP_001243502.1:p.Gly131Ser | |
| NR_046317.1:n.1175G>A | ||
| XM_011528524.1:c.706G>A | XP_011526826.1:p.Gly236Ser | |
| XM_017027625.2:c.391G>A | XP_016883114.1:p.Gly131Ser | |
| XM_024451822.1:c.391G>A | XP_024307590.1:p.Gly131Ser | |
| NM_001256573.2:c.391G>A | NP_001243502.1:p.Gly131Ser | |
| NR_046317.2:n.1128G>A | ||
| NM_000744.7:c.919G>A MANE Select | NP_000735.1:p.Gly307Ser |