Linked Data
ClinVar Variation Id:
3075903
ClinVar RCV Id:
RCV004018221
dbSNP Id:
rs531073647
ExAC:
5:68715400 C / A
gnomAD v2:
5-68715400-C-A
gnomAD v4:
5-69419573-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69419573C>A , CM000667.2:g.69419573C>A | GRCh38 |
| NC_000005.9:g.68715400C>A , CM000667.1:g.68715400C>A | GRCh37 |
| NC_000005.8:g.68751156C>A | NCBI36 |
| NG_017201.1:g.9462C>A | |
| NG_017201.2:g.9462C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325631.10:c.188C>A MANE Select | ENSP00000323264.5:p.Ser63Ter | |
| ENST00000413223.3:c.188C>A | ENSP00000398922.2:p.Ser63Ter | |
| ENST00000436532.7:c.188C>A | ENSP00000414776.2:p.Ser63Ter | |
| ENST00000645446.1:c.188C>A | ENSP00000494616.1:p.Ser63Ter | |
| ENST00000647531.1:c.188C>A | ENSP00000493858.1:p.Ser63Ter | |
| ENST00000325631.9:c.188C>A | ENSP00000323264.5:p.Ser63Ter | |
| ENST00000413223.2:c.188C>A | ENSP00000398922.2:p.Ser63Ter | |
| ENST00000436532.6:c.188C>A | ENSP00000414776.2:p.Ser63Ter | |
| ENST00000454295.6:c.188C>A | ENSP00000396244.2:p.Ser63Ter | |
| ENST00000512803.5:c.188C>A | ENSP00000423490.1:p.Ser63Ter | |
| ENST00000515844.1:c.188C>A | ENSP00000421902.1:p.Ser63Ter | |
| NM_001038603.2:c.188C>A | NP_001033692.2:p.Ser63Ter | |
| NM_001244734.1:c.188C>A | NP_001231663.1:p.Ser63Ter | |
| XM_005248445.3:c.188C>A | XP_005248502.1:p.Ser63Ter | |
| XM_005248446.3:c.188C>A | XP_005248503.1:p.Ser63Ter | |
| XM_005248447.3:c.188C>A | XP_005248504.1:p.Ser63Ter | |
| XM_005248445.4:c.188C>A | XP_005248502.1:p.Ser63Ter | |
| XM_005248446.4:c.188C>A | XP_005248503.1:p.Ser63Ter | |
| XM_005248447.4:c.188C>A | XP_005248504.1:p.Ser63Ter | |
| NM_001038603.3:c.188C>A MANE Select | NP_001033692.2:p.Ser63Ter | |
| NM_001244734.2:c.188C>A | NP_001231663.1:p.Ser63Ter |