Linked Data
ClinVar Variation Id:
1976187
ClinVar RCV Id:
RCV002760768
dbSNP Id:
rs143500912
ExAC:
4:6303250 C / G
gnomAD v2:
4-6303250-C-G
gnomAD v4:
4-6301523-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301523C>G , CM000666.2:g.6301523C>G | GRCh38 |
| NC_000004.11:g.6303250C>G , CM000666.1:g.6303250C>G | GRCh37 |
| NC_000004.10:g.6354151C>G | NCBI36 |
| NG_011700.1:g.36674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1764C>G | ENSP00000507852.1:p.Gly588= | |
| ENST00000683395.1:c.1705C>G | ||
| ENST00000684087.1:c.1728C>G | ENSP00000506978.1:p.Gly576= | |
| ENST00000506362.2:c.1479C>G | ENSP00000424103.2:p.Gly493= | |
| ENST00000673642.1:c.1387C>G | ENSP00000501242.1:n.1387C>G | |
| ENST00000673991.1:c.1764C>G | ENSP00000501033.1:p.Gly588= | |
| ENST00000226760.5:c.1728C>G MANE Select | ENSP00000226760.1:p.Gly576= | |
| ENST00000503569.5:c.1728C>G | ENSP00000423337.1:p.Gly576= | |
| ENST00000507765.1:n.1913C>G | ||
| NM_001145853.1:c.1728C>G | NP_001139325.1:p.Gly576= | |
| NM_006005.3:c.1728C>G MANE Select | NP_005996.2:p.Gly576= | |
| XM_017008586.1:c.1737C>G | XP_016864075.1:p.Gly579= |