Linked Data
ClinVar Variation Id:
1525692
ClinVar RCV Id:
RCV002050417
dbSNP Id:
rs1412463792
gnomAD v2:
7-150674968-T-C
gnomAD v3:
7-150977880-T-C
gnomAD v4:
7-150977880-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977880T>C , CM000669.2:g.150977880T>C | GRCh38 |
| NC_000007.13:g.150674968T>C , CM000669.1:g.150674968T>C | GRCh37 |
| NC_000007.12:g.150305901T>C | NCBI36 |
| NG_008916.1:g.5047A>G , LRG_288:g.5047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.34A>G MANE Select | ENSP00000262186.5:p.Asn12Asp | |
| ENST00000262186.9:c.34A>G | ENSP00000262186.5:p.Asn12Asp | |
| ENST00000430723.4:c.-144A>G | ENSP00000387657.4:n.-144A>G | |
| ENST00000532957.5:n.257A>G | ||
| NM_000238.3:c.34A>G , LRG_288t1:c.34A>G | NP_000229.1:p.Asn12Asp | |
| NM_172056.2:c.34A>G , LRG_288t2:c.34A>G | NP_742053.1:p.Asn12Asp | |
| XM_011516186.1:c.34A>G | XP_011514488.1:p.Asn12Asp | |
| XM_011516186.3:c.34A>G | XP_011514488.1:p.Asn12Asp | |
| NM_000238.4:c.34A>G MANE Select | NP_000229.1:p.Asn12Asp |