Linked Data
ClinVar Variation Id:
1305140
ClinVar RCV Id:
RCV001773850
dbSNP Id:
rs766928397
ExAC:
5:68716183 C / A
gnomAD v2:
5-68716183-C-A
gnomAD v4:
5-69420356-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69420356C>A , CM000667.2:g.69420356C>A | GRCh38 |
| NC_000005.9:g.68716183C>A , CM000667.1:g.68716183C>A | GRCh37 |
| NC_000005.8:g.68751939C>A | NCBI36 |
| NG_017201.1:g.10245C>A | |
| NG_017201.2:g.10245C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325631.10:c.971C>A MANE Select | ENSP00000323264.5:p.Pro324Gln | |
| ENST00000413223.3:c.726-103C>A | ENSP00000398922.2:n.726-103C>A | |
| ENST00000436532.7:c.726-103C>A | ENSP00000414776.2:n.726-103C>A | |
| ENST00000645446.1:c.971C>A | ENSP00000494616.1:p.Pro324Gln | |
| ENST00000647531.1:c.971C>A | ENSP00000493858.1:p.Pro324Gln | |
| ENST00000325631.9:c.971C>A | ENSP00000323264.5:p.Pro324Gln | |
| ENST00000413223.2:c.726-103C>A | ENSP00000398922.2:n.726-103C>A | |
| ENST00000436532.6:c.726-103C>A | ENSP00000414776.2:n.726-103C>A | |
| ENST00000454295.6:c.971C>A | ENSP00000396244.2:p.Pro324Gln | |
| ENST00000512803.5:c.971C>A | ENSP00000423490.1:p.Pro324Gln | |
| NM_001038603.2:c.971C>A | NP_001033692.2:p.Pro324Gln | |
| NM_001244734.1:c.971C>A | NP_001231663.1:p.Pro324Gln | |
| XM_005248445.3:c.971C>A | XP_005248502.1:p.Pro324Gln | |
| XM_005248446.3:c.971C>A | XP_005248503.1:p.Pro324Gln | |
| XM_005248447.3:c.971C>A | XP_005248504.1:p.Pro324Gln | |
| XM_005248445.4:c.971C>A | XP_005248502.1:p.Pro324Gln | |
| XM_005248446.4:c.971C>A | XP_005248503.1:p.Pro324Gln | |
| XM_005248447.4:c.971C>A | XP_005248504.1:p.Pro324Gln | |
| NM_001038603.3:c.971C>A MANE Select | NP_001033692.2:p.Pro324Gln | |
| NM_001244734.2:c.971C>A | NP_001231663.1:p.Pro324Gln |