Linked Data
ClinVar Variation Id:
1494140
ClinVar RCV Id:
RCV002012807
dbSNP Id:
rs749441583
ExAC:
16:28943352 C / T
gnomAD v4:
16-28932031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28932031C>T , CM000678.2:g.28932031C>T | GRCh38 |
| NC_000016.9:g.28943352C>T , CM000678.1:g.28943352C>T | GRCh37 |
| NC_000016.8:g.28850853C>T | NCBI36 |
| NG_007275.1:g.5093C>T , LRG_35:g.5093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324662.8:c.31C>T (CD19) | ENSP00000313419.4:p.Leu11Phe | |
| ENST00000538922.8:c.31C>T (CD19) MANE Select | ENSP00000437940.2:p.Leu11Phe | |
| ENST00000324662.7:c.31C>T (CD19) | ENSP00000313419.3:p.Leu11Phe | |
| ENST00000538922.5:c.31C>T (CD19) | ENSP00000437940.1:p.Leu11Phe | |
| ENST00000565089.5:n.67C>T (CD19) | ||
| ENST00000566762.1:c.-150+4233G>A (RABEP2) | ENSP00000454974.1:n.-150+4233G>A | |
| ENST00000567541.5:c.31C>T (CD19) | ENSP00000456201.1:p.Leu11Phe | |
| ENST00000611258.4:c.31C>T (CD19) | ENSP00000481090.1:p.Leu11Phe | |
| NM_001178098.1:c.31C>T (CD19) | NP_001171569.1:p.Leu11Phe | |
| NM_001770.5:c.31C>T , LRG_35t1:c.31C>T (CD19) | NP_001761.3:p.Leu11Phe | |
| XM_006721103.2:c.31C>T (CD19) | XP_006721166.1:p.Leu11Phe | |
| XM_011545981.1:c.31C>T (CD19) | XP_011544283.1:p.Leu11Phe | |
| XR_950871.1:n.93C>T (CD19) | ||
| XR_950872.1:n.93C>T (CD19) | ||
| XM_006721103.3:c.31C>T (CD19) | XP_006721166.1:p.Leu11Phe | |
| XM_011545981.2:c.31C>T (CD19) | XP_011544283.1:p.Leu11Phe | |
| XM_017023893.1:c.31C>T (CD19) | XP_016879382.1:p.Leu11Phe | |
| XR_950871.2:n.76C>T (CD19) | ||
| NM_001178098.2:c.31C>T (CD19) | NP_001171569.1:p.Leu11Phe | |
| NM_001770.6:c.31C>T (CD19) MANE Select | NP_001761.3:p.Leu11Phe | |
| NM_001385732.1:c.31C>T (CD19) | NP_001372661.1:p.Leu11Phe | |
| NR_169755.1:n.61C>T (CD19) |