Linked Data
ClinVar Variation Id:
413325
dbSNP Id:
rs780197027
ExAC:
7:150671828 T / C
gnomAD v2:
7-150671828-T-C
gnomAD v3:
7-150974740-T-C
gnomAD v4:
7-150974740-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974740T>C , CM000669.2:g.150974740T>C | GRCh38 |
| NC_000007.13:g.150671828T>C , CM000669.1:g.150671828T>C | GRCh37 |
| NC_000007.12:g.150302761T>C | NCBI36 |
| NG_008916.1:g.8187A>G , LRG_288:g.8187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.278A>G MANE Select | ENSP00000262186.5:p.Lys93Arg | |
| ENST00000262186.9:c.278A>G | ENSP00000262186.5:p.Lys93Arg | |
| ENST00000430723.4:c.101A>G | ENSP00000387657.4:p.Lys34Arg | |
| ENST00000532957.5:n.501A>G | ||
| NM_000238.3:c.278A>G , LRG_288t1:c.278A>G | NP_000229.1:p.Lys93Arg | |
| NM_172056.2:c.278A>G , LRG_288t2:c.278A>G | NP_742053.1:p.Lys93Arg | |
| XM_011516186.1:c.278A>G | XP_011514488.1:p.Lys93Arg | |
| XM_011516186.3:c.278A>G | XP_011514488.1:p.Lys93Arg | |
| XM_017012196.1:c.101A>G | XP_016867685.1:p.Lys34Arg | |
| NM_000238.4:c.278A>G MANE Select | NP_000229.1:p.Lys93Arg |