Linked Data
dbSNP Id:
rs1566945986
gnomAD v2:
15-65321928-A-G
gnomAD v4:
15-65029590-A-G
MyVariant Identifiers:
chr15:g.65321928A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029590A>G , CM000677.2:g.65029590A>G | GRCh38 |
| NC_000015.9:g.65321928A>G , CM000677.1:g.65321928A>G | GRCh37 |
| NC_000015.8:g.63108981A>G | NCBI36 |
| NG_029184.1:g.5050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.24T>C MANE Select | ENSP00000220058.4:p.Cys8= | |
| ENST00000220058.8:c.24T>C | ENSP00000220058.4:p.Cys8= | |
| ENST00000543678.1:c.24T>C | ENSP00000443754.1:p.Cys8= | |
| ENST00000558460.5:c.24T>C | ENSP00000452646.1:p.Cys8= | |
| ENST00000560717.5:c.9T>C | ENSP00000457257.1:p.Cys3= | |
| NM_139242.3:c.24T>C | NP_640335.2:p.Cys8= | |
| XM_005254158.5:c.24T>C | XP_005254215.2:p.Cys8= | |
| XR_001751081.1:n.39T>C | ||
| NM_139242.4:c.24T>C MANE Select | NP_640335.2:p.Cys8= |