Linked Data
ClinVar Variation Id:
624041
ClinVar RCV Id:
RCV000762134
dbSNP Id:
rs766730980
gnomAD v3:
4-6301448-C-A
gnomAD v4:
4-6301448-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301448C>A , CM000666.2:g.6301448C>A | GRCh38 |
| NC_000004.11:g.6303175C>A , CM000666.1:g.6303175C>A | GRCh37 |
| NC_000004.10:g.6354076C>A | NCBI36 |
| NG_011700.1:g.36599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1689C>A | ENSP00000507852.1:p.Ser563= | |
| ENST00000683395.1:c.1630C>A | ||
| ENST00000684087.1:c.1653C>A | ENSP00000506978.1:p.Ser551= | |
| ENST00000506362.2:c.1404C>A | ENSP00000424103.2:p.Ser468= | |
| ENST00000673642.1:c.1312C>A | ENSP00000501242.1:n.1312C>A | |
| ENST00000673991.1:c.1689C>A | ENSP00000501033.1:p.Ser563= | |
| ENST00000226760.5:c.1653C>A MANE Select | ENSP00000226760.1:p.Ser551= | |
| ENST00000503569.5:c.1653C>A | ENSP00000423337.1:p.Ser551= | |
| ENST00000507765.1:n.1838C>A | ||
| NM_001145853.1:c.1653C>A | NP_001139325.1:p.Ser551= | |
| NM_006005.3:c.1653C>A MANE Select | NP_005996.2:p.Ser551= | |
| XM_017008586.1:c.1662C>A | XP_016864075.1:p.Ser554= |