Linked Data
ClinVar Variation Id:
782145
ClinVar RCV Id:
RCV000963496
dbSNP Id:
rs12380147
ExAC:
9:77613539 A / G
gnomAD v2:
9-77613539-A-G
gnomAD v3:
9-74998623-A-G
gnomAD v4:
9-74998623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74998623A>G , CM000671.2:g.74998623A>G | GRCh38 |
| NC_000009.11:g.77613539A>G , CM000671.1:g.77613539A>G | GRCh37 |
| NC_000009.10:g.76803359A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376834.8:c.885T>C MANE Select | ENSP00000366030.3:p.Asp295= | |
| ENST00000376834.7:c.885T>C | ENSP00000366030.3:p.Asp295= | |
| ENST00000451153.1:c.702T>C | ENSP00000396353.1:p.Asp234= | |
| NM_152420.1:c.885T>C | NP_689633.1:p.Asp295= | |
| XM_005251701.2:c.681T>C | XP_005251758.2:p.Asp227= | |
| XM_005251702.1:c.648T>C | XP_005251759.1:p.Asp216= | |
| XM_011518224.1:c.444T>C | XP_011516526.1:p.Asp148= | |
| XR_242567.2:n.988T>C | ||
| NM_001320497.1:c.648T>C | NP_001307426.1:p.Asp216= | |
| NM_152420.2:c.885T>C | NP_689633.1:p.Asp295= | |
| NR_135282.1:n.933T>C | ||
| XM_005251701.3:c.681T>C | XP_005251758.2:p.Asp227= | |
| XM_017014269.2:c.648T>C | XP_016869758.1:p.Asp216= | |
| XM_017014270.2:c.444T>C | XP_016869759.1:p.Asp148= | |
| XM_017014271.1:c.444T>C | XP_016869760.1:p.Asp148= | |
| NM_152420.3:c.885T>C MANE Select | NP_689633.1:p.Asp295= | |
| NM_001320497.2:c.648T>C | NP_001307426.1:p.Asp216= |