Linked Data
ClinVar Variation Id:
1601056
ClinVar RCV Id:
RCV002124856
dbSNP Id:
rs201198198
ExAC:
14:99640551 T / C
gnomAD v2:
14-99640551-T-C
gnomAD v3:
14-99174214-T-C
gnomAD v4:
14-99174214-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174214T>C , CM000676.2:g.99174214T>C | GRCh38 |
| NC_000014.8:g.99640551T>C , CM000676.1:g.99640551T>C | GRCh37 |
| NC_000014.7:g.98710304T>C | NCBI36 |
| NG_027894.1:g.102272A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2622A>G MANE Select | ENSP00000349723.3:p.Lys874= | |
| ENST00000345514.2:c.2409A>G | ENSP00000280435.6:p.Lys803= | |
| ENST00000357195.7:c.2622A>G | ENSP00000349723.3:p.Lys874= | |
| ENST00000443726.2:c.2040A>G | ENSP00000387419.2:p.Lys680= | |
| NM_001282237.1:c.2619A>G | NP_001269166.1:p.Lys873= | |
| NM_001282238.1:c.2406A>G | NP_001269167.1:p.Lys802= | |
| NM_022898.2:c.2409A>G | NP_075049.1:p.Lys803= | |
| NM_138576.3:c.2622A>G | NP_612808.1:p.Lys874= | |
| XM_011537100.1:c.2484A>G | XP_011535402.1:p.Lys828= | |
| NM_138576.4:c.2622A>G MANE Select | NP_612808.1:p.Lys874= | |
| NM_001282237.2:c.2619A>G | NP_001269166.1:p.Lys873= | |
| NM_001282238.2:c.2406A>G | NP_001269167.1:p.Lys802= | |
| NM_022898.3:c.2409A>G | NP_075049.1:p.Lys803= |