Linked Data
ClinVar Variation Id:
2893787
ClinVar RCV Id:
RCV003732982
dbSNP Id:
rs1294692211
gnomAD v2:
14-99640854-T-C
gnomAD v4:
14-99174517-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174517T>C , CM000676.2:g.99174517T>C | GRCh38 |
| NC_000014.8:g.99640854T>C , CM000676.1:g.99640854T>C | GRCh37 |
| NC_000014.7:g.98710607T>C | NCBI36 |
| NG_027894.1:g.101969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2319A>G MANE Select | ENSP00000349723.3:p.Gly773= | |
| ENST00000345514.2:c.2106A>G | ENSP00000280435.6:p.Gly702= | |
| ENST00000357195.7:c.2319A>G | ENSP00000349723.3:p.Gly773= | |
| ENST00000443726.2:c.1737A>G | ENSP00000387419.2:p.Gly579= | |
| NM_001282237.1:c.2316A>G | NP_001269166.1:p.Gly772= | |
| NM_001282238.1:c.2103A>G | NP_001269167.1:p.Gly701= | |
| NM_022898.2:c.2106A>G | NP_075049.1:p.Gly702= | |
| NM_138576.3:c.2319A>G | NP_612808.1:p.Gly773= | |
| XM_011537100.1:c.2181A>G | XP_011535402.1:p.Gly727= | |
| NM_138576.4:c.2319A>G MANE Select | NP_612808.1:p.Gly773= | |
| NM_001282237.2:c.2316A>G | NP_001269166.1:p.Gly772= | |
| NM_001282238.2:c.2103A>G | NP_001269167.1:p.Gly701= | |
| NM_022898.3:c.2106A>G | NP_075049.1:p.Gly702= |