Linked Data
ClinVar Variation Id:
2428576
ClinVar RCV Id:
RCV003120177
dbSNP Id:
rs1803059033
gnomAD v3:
7-76303821-G-A
gnomAD v4:
7-76303821-G-A
MyVariant Identifiers:
chr7:g.75933138G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303821G>A , CM000669.2:g.76303821G>A | GRCh38 |
| NC_000007.13:g.75933138G>A , CM000669.1:g.75933138G>A | GRCh37 |
| NC_000007.12:g.75771074G>A | NCBI36 |
| NG_008995.1:g.6264G>A , LRG_248:g.6264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.384G>A MANE Select | ENSP00000248553.6:p.Gln128= | |
| ENST00000674547.1:c.384G>A | ENSP00000502461.1:p.Gln128= | |
| ENST00000674638.1:c.379G>A | ENSP00000502651.1:p.Gly127Arg | |
| ENST00000674650.1:c.365-163G>A | ENSP00000501628.1:n.365-163G>A | |
| ENST00000674965.1:c.*40G>A | ENSP00000501765.1:n.*40G>A | |
| ENST00000675134.1:c.384G>A | ENSP00000501831.1:p.Gln128= | |
| ENST00000675226.1:c.383G>A | ENSP00000502510.1:p.Arg128Lys | |
| ENST00000675417.1:n.617G>A | ||
| ENST00000675538.1:c.419G>A | ENSP00000502495.1:p.Arg140Lys | |
| ENST00000675906.1:c.384G>A | ENSP00000502714.1:p.Gln128= | |
| ENST00000676195.1:n.100G>A | ||
| ENST00000676231.1:c.414G>A | ENSP00000502249.1:p.Gln138= | |
| ENST00000248553.6:c.384G>A | ENSP00000248553.6:p.Gln128= | |
| ENST00000429938.1:c.-121G>A | ENSP00000405285.1:n.-121G>A | |
| ENST00000447574.1:c.*548G>A | ENSP00000414357.1:n.*548G>A | |
| NM_001540.3:c.384G>A , LRG_248t1:c.384G>A | NP_001531.1:p.Gln128= | |
| NM_001540.4:c.384G>A | NP_001531.1:p.Gln128= | |
| NM_001540.5:c.384G>A MANE Select | NP_001531.1:p.Gln128= |