Linked Data
ClinVar Variation Id:
1412493
dbSNP Id:
rs760692398
ExAC:
4:6303002 G / A
gnomAD v2:
4-6303002-G-A
gnomAD v3:
4-6301275-G-A
gnomAD v4:
4-6301275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301275G>A , CM000666.2:g.6301275G>A | GRCh38 |
| NC_000004.11:g.6303002G>A , CM000666.1:g.6303002G>A | GRCh37 |
| NC_000004.10:g.6353903G>A | NCBI36 |
| NG_011700.1:g.36426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1516G>A | ENSP00000507852.1:p.Gly506Ser | |
| ENST00000683395.1:c.1457G>A | ||
| ENST00000684087.1:c.1480G>A | ENSP00000506978.1:p.Gly494Ser | |
| ENST00000506362.2:c.1231G>A | ENSP00000424103.2:p.Gly411Ser | |
| ENST00000673642.1:c.1139G>A | ENSP00000501242.1:p.Arg380Gln | |
| ENST00000673991.1:c.1516G>A | ENSP00000501033.1:p.Gly506Ser | |
| ENST00000226760.5:c.1480G>A MANE Select | ENSP00000226760.1:p.Gly494Ser | |
| ENST00000503569.5:c.1480G>A | ENSP00000423337.1:p.Gly494Ser | |
| ENST00000507765.1:n.1665G>A | ||
| NM_001145853.1:c.1480G>A | NP_001139325.1:p.Gly494Ser | |
| NM_006005.3:c.1480G>A MANE Select | NP_005996.2:p.Gly494Ser | |
| XM_017008586.1:c.1489G>A | XP_016864075.1:p.Gly497Ser |