Linked Data
dbSNP Id:
rs760991811
ExAC:
8:134145879 C / T
gnomAD v2:
8-134145879-C-T
gnomAD v3:
8-133133635-C-T
gnomAD v4:
8-133133635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133635C>T , CM000670.2:g.133133635C>T | GRCh38 |
| NC_000008.10:g.134145879C>T , CM000670.1:g.134145879C>T | GRCh37 |
| NC_000008.9:g.134215061C>T | NCBI36 |
| NG_015832.1:g.271675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8163C>T MANE Select | ENSP00000220616.4:p.Tyr2721= | |
| ENST00000220616.8:c.8163C>T | ENSP00000220616.4:p.Tyr2721= | |
| ENST00000519178.5:c.3529C>T | ||
| ENST00000519543.5:c.2562C>T | ENSP00000430430.1:p.Tyr854= | |
| ENST00000521107.1:c.375C>T | ENSP00000430161.1:p.Tyr125= | |
| ENST00000522691.1:n.249C>T | ||
| ENST00000523756.5:c.4818C>T | ||
| NM_003235.4:c.8163C>T | NP_003226.4:p.Tyr2721= | |
| XM_005251038.3:c.7971C>T | XP_005251095.1:p.Tyr2657= | |
| XM_006716622.2:c.8100C>T | XP_006716685.1:p.Tyr2700= | |
| XM_005251038.4:c.7971C>T | XP_005251095.1:p.Tyr2657= | |
| XM_006716622.3:c.8100C>T | XP_006716685.1:p.Tyr2700= | |
| XM_017013793.1:c.8097C>T | XP_016869282.1:p.Tyr2699= | |
| XM_017013794.1:c.8028C>T | XP_016869283.1:p.Tyr2676= | |
| XM_017013795.1:c.7992C>T | XP_016869284.1:p.Tyr2664= | |
| XM_017013796.1:c.7944C>T | XP_016869285.1:p.Tyr2648= | |
| XM_017013797.1:c.7902C>T | XP_016869286.1:p.Tyr2634= | |
| NM_003235.5:c.8163C>T MANE Select | NP_003226.4:p.Tyr2721= |