Linked Data
ClinVar Variation Id:
193567
dbSNP Id:
rs116827211
ExAC:
10:90974672 T / C
gnomAD v2:
10-90974672-T-C
gnomAD v3:
10-89214915-T-C
gnomAD v4:
10-89214915-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89214915T>C , CM000672.2:g.89214915T>C | GRCh38 |
| NC_000010.10:g.90974672T>C , CM000672.1:g.90974672T>C | GRCh37 |
| NC_000010.9:g.90964652T>C | NCBI36 |
| NG_008194.1:g.41989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.1113A>G MANE Select | ENSP00000337354.5:p.Glu371= | |
| ENST00000336233.9:c.1113A>G | ENSP00000337354.5:p.Glu371= | |
| ENST00000371837.5:c.945A>G | ENSP00000360903.1:p.Glu315= | |
| ENST00000456827.5:c.765A>G | ENSP00000413019.2:p.Glu255= | |
| NM_000235.3:c.1113A>G | NP_000226.2:p.Glu371= | |
| NM_001127605.2:c.1113A>G | NP_001121077.1:p.Glu371= | |
| NM_001288979.1:c.765A>G | NP_001275908.1:p.Glu255= | |
| XM_024448023.1:c.1113A>G | XP_024303791.1:p.Glu371= | |
| NM_000235.4:c.1113A>G MANE Select | NP_000226.2:p.Glu371= | |
| NM_001127605.3:c.1113A>G | NP_001121077.1:p.Glu371= | |
| NM_001288979.2:c.765A>G | NP_001275908.1:p.Glu255= |