Linked Data
ClinVar Variation Id:
1094254
ClinVar RCV Id:
RCV001414695
dbSNP Id:
rs748478702
MyVariant Identifiers:
chr7:g.150674942G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977854G>C , CM000669.2:g.150977854G>C | GRCh38 |
| NC_000007.13:g.150674942G>C , CM000669.1:g.150674942G>C | GRCh37 |
| NC_000007.12:g.150305875G>C | NCBI36 |
| NG_008916.1:g.5073C>G , LRG_288:g.5073C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.60C>G MANE Select | ENSP00000262186.5:p.Arg20= | |
| ENST00000262186.9:c.60C>G | ENSP00000262186.5:p.Arg20= | |
| ENST00000430723.4:c.-118C>G | ENSP00000387657.4:n.-118C>G | |
| ENST00000532957.5:n.283C>G | ||
| NM_000238.3:c.60C>G , LRG_288t1:c.60C>G | NP_000229.1:p.Arg20= | |
| NM_172056.2:c.60C>G , LRG_288t2:c.60C>G | NP_742053.1:p.Arg20= | |
| XM_011516186.1:c.60C>G | XP_011514488.1:p.Arg20= | |
| XM_011516186.3:c.60C>G | XP_011514488.1:p.Arg20= | |
| NM_000238.4:c.60C>G MANE Select | NP_000229.1:p.Arg20= |