Linked Data
ClinVar Variation Id:
773448
dbSNP Id:
rs149121829
ExAC:
3:132193853 C / A
gnomAD v2:
3-132193853-C-A
gnomAD v3:
3-132475009-C-A
gnomAD v4:
3-132475009-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132475009C>A , CM000665.2:g.132475009C>A | GRCh38 |
| NC_000003.11:g.132193853C>A , CM000665.1:g.132193853C>A | GRCh37 |
| NC_000003.10:g.133676543C>A | NCBI36 |
| NG_051045.1:g.62483C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.2369C>A MANE Select | ENSP00000260818.6:p.Ser790Tyr | |
| ENST00000650455.1:c.*517C>A | ENSP00000496825.1:n.*517C>A | |
| ENST00000260818.10:c.2369C>A | ENSP00000260818.6:p.Ser790Tyr | |
| ENST00000464766.1:n.206C>A | ||
| NM_015268.3:c.2369C>A | NP_056083.3:p.Ser790Tyr | |
| XM_005247245.3:c.2384C>A | XP_005247302.1:p.Ser795Tyr | |
| NM_001329126.1:c.2384C>A | NP_001316055.1:p.Ser795Tyr | |
| XM_017006036.1:c.338C>A | XP_016861525.1:p.Ser113Tyr | |
| NM_015268.4:c.2369C>A MANE Select | NP_056083.3:p.Ser790Tyr | |
| NM_001329126.2:c.2384C>A | NP_001316055.1:p.Ser795Tyr |