Linked Data
ClinVar Variation Id:
2119453
ClinVar RCV Id:
RCV003033101
dbSNP Id:
rs1560363160
gnomAD v2:
4-56212586-T-G
gnomAD v4:
4-55346419-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346419T>G , CM000666.2:g.55346419T>G | GRCh38 |
| NC_000004.11:g.56212586T>G , CM000666.1:g.56212586T>G | GRCh37 |
| NC_000004.10:g.55907343T>G | NCBI36 |
| NG_028230.1:g.5199T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.83T>G MANE Select | ENSP00000264228.4:p.Leu28Arg | |
| ENST00000679351.1:c.83T>G | ENSP00000505676.1:p.Leu28Arg | |
| ENST00000679707.1:c.83T>G | ENSP00000505713.1:p.Leu28Arg | |
| ENST00000679836.1:c.83T>G | ENSP00000506601.1:p.Leu28Arg | |
| ENST00000680700.1:c.83T>G | ENSP00000504926.1:p.Leu28Arg | |
| ENST00000264228.8:c.83T>G | ENSP00000264228.4:p.Leu28Arg | |
| ENST00000505210.1:c.8T>G | ENSP00000424714.1:p.Leu3Arg | |
| NM_024592.4:c.83T>G | NP_078868.1:p.Leu28Arg | |
| XM_005265766.2:c.83T>G | XP_005265823.1:p.Leu28Arg | |
| XM_005265767.2:c.83T>G | XP_005265824.1:p.Leu28Arg | |
| XM_005265766.4:c.83T>G | XP_005265823.1:p.Leu28Arg | |
| XM_005265767.3:c.83T>G | XP_005265824.1:p.Leu28Arg | |
| NM_024592.5:c.83T>G MANE Select | NP_078868.1:p.Leu28Arg |