Linked Data
ClinVar Variation Id:
2773431
ClinVar RCV Id:
RCV003592257
dbSNP Id:
rs1801006688
MyVariant Identifiers:
chr7:g.150645563G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948475G>A , CM000669.2:g.150948475G>A | GRCh38 |
| NC_000007.13:g.150645563G>A , CM000669.1:g.150645563G>A | GRCh37 |
| NC_000007.12:g.150276496G>A | NCBI36 |
| NG_008916.1:g.34452C>T , LRG_288:g.34452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3494C>T | ||
| ENST00000262186.10:c.2661C>T MANE Select | ENSP00000262186.5:p.Arg887= | |
| ENST00000330883.9:c.1641C>T | ENSP00000328531.4:p.Arg547= | |
| ENST00000262186.9:c.2661C>T | ENSP00000262186.5:p.Arg887= | |
| ENST00000330883.8:c.1641C>T | ENSP00000328531.4:p.Arg547= | |
| NM_000238.3:c.2661C>T , LRG_288t1:c.2661C>T | NP_000229.1:p.Arg887= | |
| NM_172057.2:c.1641C>T , LRG_288t3:c.1641C>T | NP_742054.1:p.Arg547= | |
| XM_011516185.1:c.2361C>T | XP_011514487.1:p.Arg787= | |
| XM_011516186.1:c.2661C>T | XP_011514488.1:p.Arg887= | |
| XM_011516185.2:c.2361C>T | XP_011514487.1:p.Arg787= | |
| XM_011516186.3:c.2661C>T | XP_011514488.1:p.Arg887= | |
| XM_017012195.1:c.2511C>T | XP_016867684.1:p.Arg837= | |
| XM_017012196.1:c.2484C>T | XP_016867685.1:p.Arg828= | |
| NM_000238.4:c.2661C>T MANE Select | NP_000229.1:p.Arg887= | |
| NM_172057.3:c.1641C>T | NP_742054.1:p.Arg547= |