Linked Data
ClinVar Variation Id:
1995245
ClinVar RCV Id:
RCV002796450
dbSNP Id:
rs774736103
ExAC:
19:1106473 G / C
gnomAD v2:
19-1106473-G-C
gnomAD v4:
19-1106474-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106474G>C , CM000681.2:g.1106474G>C | GRCh38 |
| NC_000019.9:g.1106473G>C , CM000681.1:g.1106473G>C | GRCh37 |
| NC_000019.8:g.1057473G>C | NCBI36 |
| NG_050621.1:g.7549G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.672+15G>C | ENSP00000473614.3:n.672+15G>C | |
| ENST00000593032.6:c.541+15G>C | ENSP00000465828.4:n.541+15G>C | |
| ENST00000706713.1:c.555+15G>C | ENSP00000516510.1:n.555+15G>C | |
| ENST00000706714.1:c.541+15G>C | ENSP00000516511.1:n.541+15G>C | |
| ENST00000706715.1:c.177+15G>C | ENSP00000516512.1:n.177+15G>C | |
| ENST00000354171.13:c.561+15G>C MANE Select | ENSP00000346103.7:n.561+15G>C | |
| ENST00000589115.6:c.536+15G>C | ENSP00000466872.3:n.536+15G>C | |
| ENST00000354171.12:c.561+15G>C | ENSP00000346103.7:n.561+15G>C | |
| ENST00000585480.1:c.294+15G>C | ENSP00000467900.1:n.294+15G>C | |
| ENST00000587648.5:c.441+15G>C | ENSP00000468349.1:n.441+15G>C | |
| ENST00000588919.5:c.502+15G>C | ENSP00000464989.3:n.502+15G>C | |
| ENST00000589115.5:c.536+15G>C | ENSP00000466872.2:n.536+15G>C | |
| ENST00000592940.2:n.932+15G>C | ||
| ENST00000611653.4:c.480+15G>C | ENSP00000483655.1:n.480+15G>C | |
| ENST00000616066.4:c.558+15G>C | ENSP00000485000.1:n.558+15G>C | |
| ENST00000622390.4:c.669+15G>C | ENSP00000477503.1:n.669+15G>C | |
| NM_001039847.2:c.583+15G>C | NP_001034936.1:n.583+15G>C | |
| NM_001039848.2:c.672+15G>C | NP_001034937.1:n.672+15G>C | |
| NM_002085.4:c.561+15G>C | NP_002076.2:n.561+15G>C | |
| NM_001039848.3:c.672+15G>C | NP_001034937.1:n.672+15G>C | |
| NM_001039847.3:c.583+15G>C | NP_001034936.1:n.583+15G>C | |
| NM_001039848.4:c.672+15G>C | NP_001034937.1:n.672+15G>C | |
| NM_001367832.1:c.480+15G>C | NP_001354761.1:n.480+15G>C | |
| NM_002085.5:c.561+15G>C MANE Select | NP_002076.2:n.561+15G>C |