Linked Data
ClinVar Variation Id:
2773427
ClinVar RCV Id:
RCV003592254
dbSNP Id:
rs1805123
gnomAD v2:
7-150645534-T-C
gnomAD v3:
7-150948446-T-C
gnomAD v4:
7-150948446-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948446T>C , CM000669.2:g.150948446T>C | GRCh38 |
| NC_000007.13:g.150645534T>C , CM000669.1:g.150645534T>C | GRCh37 |
| NC_000007.12:g.150276467T>C | NCBI36 |
| NG_008916.1:g.34481A>G , LRG_288:g.34481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3523A>G | ||
| ENST00000262186.10:c.2690A>G MANE Select | ENSP00000262186.5:p.Lys897Arg | |
| ENST00000330883.9:c.1670A>G | ENSP00000328531.4:p.Lys557Arg | |
| ENST00000262186.9:c.2690A>G | ENSP00000262186.5:p.Lys897Arg | |
| ENST00000330883.8:c.1670A>G | ENSP00000328531.4:p.Lys557Arg | |
| NM_000238.3:c.2690A>G , LRG_288t1:c.2690A>G | NP_000229.1:p.Lys897Arg | |
| NM_172057.2:c.1670A>G , LRG_288t3:c.1670A>G | NP_742054.1:p.Lys557Arg | |
| XM_011516185.1:c.2390A>G | XP_011514487.1:p.Lys797Arg | |
| XM_011516186.1:c.2690A>G | XP_011514488.1:p.Lys897Arg | |
| XM_011516185.2:c.2390A>G | XP_011514487.1:p.Lys797Arg | |
| XM_011516186.3:c.2690A>G | XP_011514488.1:p.Lys897Arg | |
| XM_017012195.1:c.2540A>G | XP_016867684.1:p.Lys847Arg | |
| XM_017012196.1:c.2513A>G | XP_016867685.1:p.Lys838Arg | |
| NM_000238.4:c.2690A>G MANE Select | NP_000229.1:p.Lys897Arg | |
| NM_172057.3:c.1670A>G | NP_742054.1:p.Lys557Arg |