Linked Data
dbSNP Id:
rs1217566110
gnomAD v2:
8-134030194-C-T
gnomAD v3:
8-133017949-C-T
gnomAD v4:
8-133017949-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133017949C>T , CM000670.2:g.133017949C>T | GRCh38 |
| NC_000008.10:g.134030194C>T , CM000670.1:g.134030194C>T | GRCh37 |
| NC_000008.9:g.134099376C>T | NCBI36 |
| NG_015832.1:g.155990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.6734C>T MANE Select | ENSP00000220616.4:p.Ala2245Val | |
| ENST00000220616.8:c.6734C>T | ENSP00000220616.4:p.Ala2245Val | |
| ENST00000518108.1:c.168+83C>T | ||
| ENST00000519178.5:c.2100C>T | ||
| ENST00000519543.5:c.1133C>T | ENSP00000430430.1:p.Ala378Val | |
| ENST00000522523.5:n.795C>T | ||
| ENST00000523756.5:c.3389C>T | ||
| NM_003235.4:c.6734C>T | NP_003226.4:p.Ala2245Val | |
| XM_005251038.3:c.6542C>T | XP_005251095.1:p.Ala2181Val | |
| XM_006716622.2:c.6671C>T | XP_006716685.1:p.Ala2224Val | |
| XM_005251038.4:c.6542C>T | XP_005251095.1:p.Ala2181Val | |
| XM_006716622.3:c.6671C>T | XP_006716685.1:p.Ala2224Val | |
| XM_017013793.1:c.6668C>T | XP_016869282.1:p.Ala2223Val | |
| XM_017013794.1:c.6734C>T | XP_016869283.1:p.Ala2245Val | |
| XM_017013795.1:c.6563C>T | XP_016869284.1:p.Ala2188Val | |
| XM_017013796.1:c.6515C>T | XP_016869285.1:p.Ala2172Val | |
| XM_017013797.1:c.6473C>T | XP_016869286.1:p.Ala2158Val | |
| XM_017013798.1:c.6734C>T | XP_016869287.1:p.Ala2245Val | |
| NM_003235.5:c.6734C>T MANE Select | NP_003226.4:p.Ala2245Val |