Linked Data
ClinVar Variation Id:
12696
dbSNP Id:
rs2076740
ExAC:
8:133984058 C / T
gnomAD v2:
8-133984058-C-T
gnomAD v3:
8-132971813-C-T
gnomAD v4:
8-132971813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132971813C>T , CM000670.2:g.132971813C>T | GRCh38 |
| NC_000008.10:g.133984058C>T , CM000670.1:g.133984058C>T | GRCh37 |
| NC_000008.9:g.134053240C>T | NCBI36 |
| NG_015832.1:g.109854C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220616.9:c.5995C>T MANE Select | ENSP00000220616.4:p.Arg1999Trp | |
| ENST00000220616.8:c.5995C>T | ENSP00000220616.4:p.Arg1999Trp | |
| ENST00000519178.5:c.1361C>T | ||
| ENST00000519543.5:c.457C>T | ENSP00000430430.1:p.Arg153Trp | |
| ENST00000520089.5:n.104C>T | ||
| ENST00000520197.5:n.132C>T | ||
| ENST00000523756.5:c.2650C>T | ||
| NM_003235.4:c.5995C>T | NP_003226.4:p.Arg1999Trp | |
| XM_005251038.3:c.5803C>T | XP_005251095.1:p.Arg1935Trp | |
| XM_005251040.3:c.5995C>T | XP_005251097.1:p.Arg1999Trp | |
| XM_005251042.3:c.5995C>T | XP_005251099.1:p.Arg1999Trp | |
| XM_005251043.3:c.5995C>T | XP_005251100.1:p.Arg1999Trp | |
| XM_006716622.2:c.5995C>T | XP_006716685.1:p.Arg1999Trp | |
| XM_005251038.4:c.5803C>T | XP_005251095.1:p.Arg1935Trp | |
| XM_005251040.4:c.5995C>T | XP_005251097.1:p.Arg1999Trp | |
| XM_005251042.4:c.5995C>T | XP_005251099.1:p.Arg1999Trp | |
| XM_006716622.3:c.5995C>T | XP_006716685.1:p.Arg1999Trp | |
| XM_017013793.1:c.5929C>T | XP_016869282.1:p.Arg1977Trp | |
| XM_017013794.1:c.5995C>T | XP_016869283.1:p.Arg1999Trp | |
| XM_017013795.1:c.5824C>T | XP_016869284.1:p.Arg1942Trp | |
| XM_017013796.1:c.5776C>T | XP_016869285.1:p.Arg1926Trp | |
| XM_017013797.1:c.5734C>T | XP_016869286.1:p.Arg1912Trp | |
| XM_017013798.1:c.5995C>T | XP_016869287.1:p.Arg1999Trp | |
| XM_017013799.1:c.5995C>T | XP_016869288.1:p.Arg1999Trp | |
| XM_017013800.1:c.5995C>T | XP_016869289.1:p.Arg1999Trp | |
| NM_003235.5:c.5995C>T MANE Select | NP_003226.4:p.Arg1999Trp |