Linked Data
ClinVar Variation Id:
543551
ClinVar RCV Id:
RCV000654358
dbSNP Id:
rs201386851
ExAC:
20:61987338 G / A
gnomAD v2:
20-61987338-G-A
gnomAD v3:
20-63355986-G-A
gnomAD v4:
20-63355986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63355986G>A , CM000682.2:g.63355986G>A | GRCh38 |
| NC_000020.10:g.61987338G>A , CM000682.1:g.61987338G>A | GRCh37 |
| NC_000020.9:g.61457782G>A | NCBI36 |
| NG_011931.1:g.10358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.372C>T MANE Select | ENSP00000359285.4:p.Val124= | |
| ENST00000636652.1:n.85C>T | ||
| ENST00000637628.1:n.56C>T | ||
| ENST00000370263.8:c.372C>T | ENSP00000359285.4:p.Val124= | |
| ENST00000463705.5:n.1032-4959C>T | ||
| ENST00000467563.3:n.424C>T | ||
| ENST00000498043.6:c.296C>T | ||
| ENST00000615287.4:c.59C>T | ENSP00000483388.1:p.Ser20Phe | |
| ENST00000627000.1:c.*61C>T | ENSP00000486914.1:n.*61C>T | |
| ENST00000627869.1:n.153C>T | ||
| ENST00000628665.1:n.397C>T | ||
| NM_000744.6:c.372C>T | NP_000735.1:p.Val124= | |
| NM_001256573.1:c.-175C>T | NP_001243502.1:n.-175C>T | |
| NR_046317.1:n.628C>T | ||
| XM_011528524.1:c.59C>T | XP_011526826.1:p.Ser20Phe | |
| XM_017027625.2:c.-175C>T | XP_016883114.1:n.-175C>T | |
| NM_001256573.2:c.-175C>T | NP_001243502.1:n.-175C>T | |
| NR_046317.2:n.581C>T | ||
| NM_000744.7:c.372C>T MANE Select | NP_000735.1:p.Val124= |