Linked Data
ClinVar Variation Id:
871100
ClinVar RCV Id:
RCV001090873
dbSNP Id:
rs776272483
ExAC:
20:61981804 G / T
gnomAD v2:
20-61981804-G-T
gnomAD v4:
20-63350452-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350452G>T , CM000682.2:g.63350452G>T | GRCh38 |
| NC_000020.10:g.61981804G>T , CM000682.1:g.61981804G>T | GRCh37 |
| NC_000020.9:g.61452248G>T | NCBI36 |
| NG_011931.1:g.15892C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.959C>A MANE Select | ENSP00000359285.4:p.Ser320Tyr | |
| ENST00000370263.8:c.959C>A | ENSP00000359285.4:p.Ser320Tyr | |
| ENST00000463705.5:n.1607C>A | ||
| ENST00000467563.3:n.1029C>A | ||
| ENST00000498043.6:c.983C>A | ||
| ENST00000615287.4:c.746C>A | ENSP00000483388.1:p.Ser249Tyr | |
| ENST00000627000.1:c.*648C>A | ENSP00000486914.1:n.*648C>A | |
| ENST00000630240.1:n.680C>A | ||
| NM_000744.6:c.959C>A | NP_000735.1:p.Ser320Tyr | |
| NM_001256573.1:c.431C>A | NP_001243502.1:p.Ser144Tyr | |
| NR_046317.1:n.1215C>A | ||
| XM_011528524.1:c.746C>A | XP_011526826.1:p.Ser249Tyr | |
| XM_017027625.2:c.431C>A | XP_016883114.1:p.Ser144Tyr | |
| XM_024451822.1:c.431C>A | XP_024307590.1:p.Ser144Tyr | |
| NM_001256573.2:c.431C>A | NP_001243502.1:p.Ser144Tyr | |
| NR_046317.2:n.1168C>A | ||
| NM_000744.7:c.959C>A MANE Select | NP_000735.1:p.Ser320Tyr |