Linked Data
ClinVar Variation Id:
2765704
ClinVar RCV Id:
RCV003578448
gnomAD v4:
14-99174460-G-A
MyVariant Identifiers:
chr14:g.99640797G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174460G>A , CM000676.2:g.99174460G>A | GRCh38 |
| NC_000014.8:g.99640797G>A , CM000676.1:g.99640797G>A | GRCh37 |
| NC_000014.7:g.98710550G>A | NCBI36 |
| NG_027894.1:g.102026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2376C>T MANE Select | ENSP00000349723.3:p.Gly792= | |
| ENST00000345514.2:c.2163C>T | ENSP00000280435.6:p.Gly721= | |
| ENST00000357195.7:c.2376C>T | ENSP00000349723.3:p.Gly792= | |
| ENST00000443726.2:c.1794C>T | ENSP00000387419.2:p.Gly598= | |
| NM_001282237.1:c.2373C>T | NP_001269166.1:p.Gly791= | |
| NM_001282238.1:c.2160C>T | NP_001269167.1:p.Gly720= | |
| NM_022898.2:c.2163C>T | NP_075049.1:p.Gly721= | |
| NM_138576.3:c.2376C>T | NP_612808.1:p.Gly792= | |
| XM_011537100.1:c.2238C>T | XP_011535402.1:p.Gly746= | |
| NM_138576.4:c.2376C>T MANE Select | NP_612808.1:p.Gly792= | |
| NM_001282237.2:c.2373C>T | NP_001269166.1:p.Gly791= | |
| NM_001282238.2:c.2160C>T | NP_001269167.1:p.Gly720= | |
| NM_022898.3:c.2163C>T | NP_075049.1:p.Gly721= |