Linked Data
ClinVar Variation Id:
1106088
ClinVar RCV Id:
RCV001430713
dbSNP Id:
rs151294789
gnomAD v4:
7-66089284-G-C
MyVariant Identifiers:
chr7:g.65554271G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089284G>C , CM000669.2:g.66089284G>C | GRCh38 |
| NC_000007.13:g.65554271G>C , CM000669.1:g.65554271G>C | GRCh37 |
| NC_000007.12:g.65191706G>C | NCBI36 |
| NG_009288.1:g.18496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.927G>C MANE Select | ENSP00000307188.9:p.Gly309= | |
| ENST00000362000.10:c.732G>C | ENSP00000354710.6:p.Gly244= | |
| ENST00000380839.9:c.849G>C | ENSP00000370219.4:p.Gly283= | |
| ENST00000395331.4:c.918+109G>C | ENSP00000378740.3:n.918+109G>C | |
| ENST00000395332.8:c.927G>C | ENSP00000378741.3:p.Gly309= | |
| ENST00000488343.2:c.96G>C | ENSP00000500864.1:p.Gly32= | |
| ENST00000671817.1:c.849G>C | ENSP00000500462.1:p.Gly283= | |
| ENST00000672498.1:c.*226G>C | ENSP00000500227.1:n.*226G>C | |
| ENST00000672586.1:n.1686G>C | ||
| ENST00000672676.1:n.1951G>C | ||
| ENST00000673149.1:n.739G>C | ||
| ENST00000673350.1:n.3044G>C | ||
| ENST00000673518.1:c.849G>C | ENSP00000499889.1:p.Gly283= | |
| ENST00000304874.13:c.927G>C | ENSP00000307188.9:p.Gly309= | |
| ENST00000380839.8:c.849G>C | ENSP00000370219.4:p.Gly283= | |
| ENST00000395331.3:c.918+109G>C | ENSP00000378740.3:n.918+109G>C | |
| ENST00000395332.7:c.927G>C | ENSP00000378741.3:p.Gly309= | |
| ENST00000450043.2:c.240G>C | ENSP00000396527.2:p.Gly80= | |
| ENST00000464970.1:n.46G>C | ||
| ENST00000488343.1:n.96G>C | ||
| ENST00000493708.5:n.408G>C | ||
| NM_000048.3:c.927G>C | NP_000039.2:p.Gly309= | |
| NM_001024943.1:c.927G>C | NP_001020114.1:p.Gly309= | |
| NM_001024944.1:c.918+109G>C | NP_001020115.1:n.918+109G>C | |
| NM_001024946.1:c.849G>C | NP_001020117.1:p.Gly283= | |
| NM_000048.4:c.927G>C MANE Select | NP_000039.2:p.Gly309= | |
| NM_001024943.2:c.927G>C | NP_001020114.1:p.Gly309= | |
| NM_001024944.2:c.918+109G>C | NP_001020115.1:n.918+109G>C | |
| NM_001024946.2:c.849G>C | NP_001020117.1:p.Gly283= |