Linked Data
dbSNP Id:
rs1470969103
gnomAD v2:
19-1106234-T-C
gnomAD v3:
19-1106235-T-C
gnomAD v4:
19-1106235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106235T>C , CM000681.2:g.1106235T>C | GRCh38 |
| NC_000019.9:g.1106234T>C , CM000681.1:g.1106234T>C | GRCh37 |
| NC_000019.8:g.1057234T>C | NCBI36 |
| NG_050621.1:g.7310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.588-7T>C | ENSP00000473614.3:n.588-7T>C | |
| ENST00000593032.6:c.450T>C | ENSP00000465828.4:p.Leu150= | |
| ENST00000706713.1:c.471-7T>C | ENSP00000516510.1:n.471-7T>C | |
| ENST00000706714.1:c.450T>C | ENSP00000516511.1:p.Leu150= | |
| ENST00000706715.1:c.93-7T>C | ENSP00000516512.1:n.93-7T>C | |
| ENST00000354171.13:c.477-7T>C MANE Select | ENSP00000346103.7:n.477-7T>C | |
| ENST00000589115.6:c.477-165T>C | ENSP00000466872.3:n.477-165T>C | |
| ENST00000354171.12:c.477-7T>C | ENSP00000346103.7:n.477-7T>C | |
| ENST00000585480.1:c.210-7T>C | ENSP00000467900.1:n.210-7T>C | |
| ENST00000587648.5:c.357-7T>C | ENSP00000468349.1:n.357-7T>C | |
| ENST00000588919.5:c.396-7T>C | ENSP00000464989.3:n.396-7T>C | |
| ENST00000589115.5:c.477-165T>C | ENSP00000466872.2:n.477-165T>C | |
| ENST00000592940.2:n.841T>C | ||
| ENST00000593032.5:c.450T>C | ENSP00000465828.3:p.Leu150= | |
| ENST00000611653.4:c.396-7T>C | ENSP00000483655.1:n.396-7T>C | |
| ENST00000616066.4:c.474-7T>C | ENSP00000485000.1:n.474-7T>C | |
| ENST00000622390.4:c.585-7T>C | ENSP00000477503.1:n.585-7T>C | |
| NM_001039847.2:c.477-7T>C | NP_001034936.1:n.477-7T>C | |
| NM_001039848.2:c.588-7T>C | NP_001034937.1:n.588-7T>C | |
| NM_002085.4:c.477-7T>C | NP_002076.2:n.477-7T>C | |
| NM_001039848.3:c.588-7T>C | NP_001034937.1:n.588-7T>C | |
| NM_001039847.3:c.477-7T>C | NP_001034936.1:n.477-7T>C | |
| NM_001039848.4:c.588-7T>C | NP_001034937.1:n.588-7T>C | |
| NM_001367832.1:c.396-7T>C | NP_001354761.1:n.396-7T>C | |
| NM_002085.5:c.477-7T>C MANE Select | NP_002076.2:n.477-7T>C |