Linked Data
ClinVar Variation Id:
727096
ClinVar RCV Id:
RCV000901388
dbSNP Id:
rs145722805
ExAC:
7:5267774 C / T
gnomAD v2:
7-5267774-C-T
gnomAD v3:
7-5228143-C-T
gnomAD v4:
7-5228143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5228143C>T , CM000669.2:g.5228143C>T | GRCh38 |
| NC_000007.13:g.5267774C>T , CM000669.1:g.5267774C>T | GRCh37 |
| NC_000007.12:g.5234300C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288828.9:c.1053C>T MANE Select | ENSP00000288828.4:p.Asp351= | |
| ENST00000288828.8:c.1053C>T | ENSP00000288828.4:p.Asp351= | |
| ENST00000382384.6:c.999C>T | ENSP00000371821.2:p.Asp333= | |
| ENST00000401525.7:c.999C>T | ENSP00000384945.3:p.Asp333= | |
| ENST00000404704.7:c.1053C>T | ENSP00000385297.3:p.Asp351= | |
| ENST00000466014.5:n.1388C>T | ||
| ENST00000471851.1:n.1435C>T | ||
| ENST00000484262.1:c.876C>T | ENSP00000429654.1:p.Asp292= | |
| NM_001033518.1:c.1053C>T | NP_001028690.1:p.Asp351= | |
| NM_001033519.1:c.999C>T | NP_001028691.1:p.Asp333= | |
| NM_001033520.1:c.876C>T | NP_001028692.1:p.Asp292= | |
| NM_001278299.1:c.621C>T | NP_001265228.1:p.Asp207= | |
| NM_015610.3:c.1053C>T | NP_056425.1:p.Asp351= | |
| NM_016003.3:c.999C>T | NP_057087.2:p.Asp333= | |
| XM_006715685.1:c.621C>T | XP_006715748.1:p.Asp207= | |
| XM_017011952.1:c.621C>T | XP_016867441.1:p.Asp207= | |
| NM_015610.4:c.1053C>T MANE Select | NP_056425.1:p.Asp351= | |
| NM_001033518.2:c.1053C>T | NP_001028690.1:p.Asp351= | |
| NM_001033519.2:c.999C>T | NP_001028691.1:p.Asp333= | |
| NM_001278299.2:c.621C>T | NP_001265228.1:p.Asp207= | |
| NM_016003.4:c.999C>T | NP_057087.2:p.Asp333= |