Linked Data
ClinVar Variation Id:
2125894
ClinVar RCV Id:
RCV003043850
dbSNP Id:
rs558302979
ExAC:
5:131940624 G / T
gnomAD v2:
5-131940624-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604932G>T , CM000667.2:g.132604932G>T | GRCh38 |
| NC_000005.9:g.131940624G>T , CM000667.1:g.131940624G>T | GRCh37 |
| NC_000005.8:g.131968523G>T | NCBI36 |
| NG_021151.1:g.53009G>T | |
| NG_021151.2:g.52956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2651G>T MANE Select | ENSP00000368100.4:p.Arg884Leu | |
| ENST00000638452.2:c.2354G>T | ENSP00000492349.2:p.Arg785Leu | |
| ENST00000638504.1:n.2259G>T | ||
| ENST00000638568.2:c.2354G>T | ENSP00000491158.2:p.Arg785Leu | |
| ENST00000639899.1:n.3170G>T | ||
| ENST00000640655.2:c.2354G>T | ENSP00000491596.2:p.Arg785Leu | |
| ENST00000651160.1:c.*795G>T | ENSP00000498829.1:n.*795G>T | |
| ENST00000651723.1:c.*2734G>T | ENSP00000498237.1:n.*2734G>T | |
| ENST00000652016.1:c.*868G>T | ENSP00000498267.1:n.*868G>T | |
| ENST00000378823.7:c.2651G>T | ENSP00000368100.4:p.Arg884Leu | |
| ENST00000423956.5:c.*837G>T | ENSP00000390971.1:n.*837G>T | |
| ENST00000533482.5:c.*2277G>T | ENSP00000431225.1:n.*2277G>T | |
| NM_005732.3:c.2651G>T | NP_005723.2:p.Arg884Leu | |
| NM_005732.4:c.2651G>T MANE Select | NP_005723.2:p.Arg884Leu |