Linked Data
ClinVar Variation Id:
2747401
ClinVar RCV Id:
RCV003497763
dbSNP Id:
rs1562745117
gnomAD v4:
7-66092580-G-A
MyVariant Identifiers:
chr7:g.65557567G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66092580G>A , CM000669.2:g.66092580G>A | GRCh38 |
| NC_000007.13:g.65557567G>A , CM000669.1:g.65557567G>A | GRCh37 |
| NC_000007.12:g.65195002G>A | NCBI36 |
| NG_009288.1:g.21792G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.1167G>A MANE Select | ENSP00000307188.9:p.Glu389= | |
| ENST00000362000.10:c.972G>A | ENSP00000354710.6:p.Glu324= | |
| ENST00000380839.9:c.1089G>A | ENSP00000370219.4:p.Glu363= | |
| ENST00000395331.4:c.1107G>A | ENSP00000378740.3:p.Glu369= | |
| ENST00000395332.8:c.1167G>A | ENSP00000378741.3:p.Glu389= | |
| ENST00000488343.2:c.148-324G>A | ENSP00000500864.1:n.148-324G>A | |
| ENST00000672498.1:c.*466G>A | ENSP00000500227.1:n.*466G>A | |
| ENST00000672586.1:n.1926G>A | ||
| ENST00000672676.1:n.2191G>A | ||
| ENST00000673149.1:n.979G>A | ||
| ENST00000673350.1:n.3284G>A | ||
| ENST00000673518.1:c.1089G>A | ENSP00000499889.1:p.Glu363= | |
| ENST00000304874.13:c.1167G>A | ENSP00000307188.9:p.Glu389= | |
| ENST00000380839.8:c.1089G>A | ENSP00000370219.4:p.Glu363= | |
| ENST00000395331.3:c.1107G>A | ENSP00000378740.3:p.Glu369= | |
| ENST00000395332.7:c.1167G>A | ENSP00000378741.3:p.Glu389= | |
| ENST00000450043.2:c.480G>A | ENSP00000396527.2:p.Glu160= | |
| ENST00000464970.1:n.370G>A | ||
| ENST00000488343.1:n.148-324G>A | ||
| ENST00000493708.5:n.648G>A | ||
| NM_000048.3:c.1167G>A | NP_000039.2:p.Glu389= | |
| NM_001024943.1:c.1167G>A | NP_001020114.1:p.Glu389= | |
| NM_001024944.1:c.1107G>A | NP_001020115.1:p.Glu369= | |
| NM_001024946.1:c.1089G>A | NP_001020117.1:p.Glu363= | |
| NM_000048.4:c.1167G>A MANE Select | NP_000039.2:p.Glu389= | |
| NM_001024943.2:c.1167G>A | NP_001020114.1:p.Glu389= | |
| NM_001024944.2:c.1107G>A | NP_001020115.1:p.Glu369= | |
| NM_001024946.2:c.1089G>A | NP_001020117.1:p.Glu363= |