Linked Data
ClinVar Variation Id:
290415
dbSNP Id:
rs200283315
ExAC:
19:36545955 C / T
gnomAD v2:
19-36545955-C-T
gnomAD v3:
19-36055053-C-T
gnomAD v4:
19-36055053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36055053C>T , CM000681.2:g.36055053C>T | GRCh38 |
| NC_000019.9:g.36545955C>T , CM000681.1:g.36545955C>T | GRCh37 |
| NC_000019.8:g.41237795C>T | NCBI36 |
| NG_028101.1:g.5173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.82C>T | ENSP00000270301.6:p.Arg28Trp | |
| ENST00000401500.7:c.82C>T MANE Select | ENSP00000384792.1:p.Arg28Trp | |
| ENST00000427823.3:c.82C>T | ENSP00000413475.4:p.Arg28Trp | |
| ENST00000587391.6:c.82C>T | ENSP00000465525.1:p.Arg28Trp | |
| ENST00000589953.2:n.146C>T | ||
| ENST00000608676.2:n.91C>T | ||
| ENST00000644764.2:c.82C>T | ENSP00000494253.2:p.Arg28Trp | |
| ENST00000679682.1:c.82C>T | ENSP00000506226.1:p.Arg28Trp | |
| ENST00000679714.1:c.82C>T | ENSP00000506627.1:p.Arg28Trp | |
| ENST00000679757.1:c.82C>T | ENSP00000505158.1:p.Arg28Trp | |
| ENST00000679858.1:c.82C>T | ENSP00000505655.1:p.Arg28Trp | |
| ENST00000680321.1:c.82C>T | ENSP00000505525.1:p.Arg28Trp | |
| ENST00000680359.1:c.82C>T | ENSP00000506079.1:p.Arg28Trp | |
| ENST00000680403.1:c.82C>T | ENSP00000505677.1:p.Arg28Trp | |
| ENST00000680489.1:n.405C>T | ||
| ENST00000680564.1:c.82C>T | ENSP00000505582.1:p.Arg28Trp | |
| ENST00000680590.1:c.82C>T | ENSP00000505350.1:p.Arg28Trp | |
| ENST00000680806.1:c.82C>T | ENSP00000506418.1:p.Arg28Trp | |
| ENST00000681542.1:c.82C>T | ENSP00000505251.1:p.Arg28Trp | |
| ENST00000681625.1:c.82C>T | ENSP00000505555.1:p.Arg28Trp | |
| ENST00000681809.1:c.82C>T | ENSP00000505740.1:p.Arg28Trp | |
| ENST00000270301.11:c.82C>T | ENSP00000270301.6:p.Arg28Trp | |
| ENST00000378860.8:n.173C>T | ||
| ENST00000401500.6:c.82C>T | ENSP00000384792.1:p.Arg28Trp | |
| ENST00000427823.2:c.64C>T | ENSP00000413475.3:p.Arg22Trp | |
| ENST00000587391.5:c.82C>T | ENSP00000465525.1:p.Arg28Trp | |
| ENST00000608676.1:n.91C>T | ||
| NM_001083961.1:c.82C>T | NP_001077430.1:p.Arg28Trp | |
| NM_173636.4:c.82C>T | NP_775907.4:p.Arg28Trp | |
| XM_005258809.2:c.82C>T | XP_005258866.1:p.Arg28Trp | |
| XM_011526837.1:c.82C>T | XP_011525139.1:p.Arg28Trp | |
| XM_011526838.1:c.82C>T | XP_011525140.1:p.Arg28Trp | |
| XM_011526839.1:c.82C>T | XP_011525141.1:p.Arg28Trp | |
| XM_017026665.1:c.82C>T | XP_016882154.1:p.Arg28Trp | |
| XR_001753671.1:n.173C>T | ||
| XR_001753672.1:n.173C>T | ||
| NM_001083961.2:c.82C>T MANE Select | NP_001077430.1:p.Arg28Trp | |
| NM_173636.5:c.82C>T | NP_775907.4:p.Arg28Trp |