Linked Data
ClinVar Variation Id:
360738
ClinVar RCV Id:
RCV002365422
dbSNP Id:
rs558882005
ExAC:
7:75933137 A / G
gnomAD v2:
7-75933137-A-G
gnomAD v3:
7-76303820-A-G
gnomAD v4:
7-76303820-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303820A>G , CM000669.2:g.76303820A>G | GRCh38 |
| NC_000007.13:g.75933137A>G , CM000669.1:g.75933137A>G | GRCh37 |
| NC_000007.12:g.75771073A>G | NCBI36 |
| NG_008995.1:g.6263A>G , LRG_248:g.6263A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248553.7:c.383A>G MANE Select | ENSP00000248553.6:p.Gln128Arg | |
| ENST00000674547.1:c.383A>G | ENSP00000502461.1:p.Gln128Arg | |
| ENST00000674638.1:c.378A>G | ENSP00000502651.1:p.Ala126= | |
| ENST00000674650.1:c.365-164A>G | ENSP00000501628.1:n.365-164A>G | |
| ENST00000674965.1:c.*39A>G | ENSP00000501765.1:n.*39A>G | |
| ENST00000675134.1:c.383A>G | ENSP00000501831.1:p.Gln128Arg | |
| ENST00000675226.1:c.382A>G | ENSP00000502510.1:p.Arg128Gly | |
| ENST00000675417.1:n.616A>G | ||
| ENST00000675538.1:c.418A>G | ENSP00000502495.1:p.Arg140Gly | |
| ENST00000675906.1:c.383A>G | ENSP00000502714.1:p.Gln128Arg | |
| ENST00000676195.1:n.99A>G | ||
| ENST00000676231.1:c.413A>G | ENSP00000502249.1:p.Gln138Arg | |
| ENST00000248553.6:c.383A>G | ENSP00000248553.6:p.Gln128Arg | |
| ENST00000429938.1:c.-122A>G | ENSP00000405285.1:n.-122A>G | |
| ENST00000447574.1:c.*547A>G | ENSP00000414357.1:n.*547A>G | |
| NM_001540.3:c.383A>G , LRG_248t1:c.383A>G | NP_001531.1:p.Gln128Arg | |
| NM_001540.4:c.383A>G | NP_001531.1:p.Gln128Arg | |
| NM_001540.5:c.383A>G MANE Select | NP_001531.1:p.Gln128Arg |