Linked Data
ClinVar Variation Id:
2891540
ClinVar RCV Id:
RCV003627180
dbSNP Id:
rs771629672
ExAC:
10:73579394 A / C
gnomAD v2:
10-73579394-A-C
gnomAD v3:
10-71819637-A-C
gnomAD v4:
10-71819637-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819637A>C , CM000672.2:g.71819637A>C | GRCh38 |
| NC_000010.10:g.73579394A>C , CM000672.1:g.73579394A>C | GRCh37 |
| NC_000010.9:g.73249400A>C | NCBI36 |
| NG_009301.1:g.36689T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1193-15T>G MANE Select | ENSP00000378394.3:n.1193-15T>G | |
| ENST00000394934.4:c.1202-15T>G | ENSP00000378392.2:n.1202-15T>G | |
| ENST00000394936.7:c.1193-15T>G | ENSP00000378394.3:n.1193-15T>G | |
| ENST00000610929.3:c.341-15T>G | ENSP00000480857.1:n.341-15T>G | |
| NM_001042465.1:c.1202-15T>G | NP_001035930.1:n.1202-15T>G | |
| NM_001042466.1:c.1199-15T>G | NP_001035931.1:n.1199-15T>G | |
| NM_002778.2:c.1193-15T>G | NP_002769.1:n.1193-15T>G | |
| NM_001042465.2:c.1202-15T>G | NP_001035930.1:n.1202-15T>G | |
| NM_001042466.2:c.1199-15T>G | NP_001035931.1:n.1199-15T>G | |
| NM_002778.3:c.1193-15T>G | NP_002769.1:n.1193-15T>G | |
| NM_002778.4:c.1193-15T>G MANE Select | NP_002769.1:n.1193-15T>G | |
| NM_001042465.3:c.1202-15T>G | NP_001035930.1:n.1202-15T>G | |
| NM_001042466.3:c.1199-15T>G | NP_001035931.1:n.1199-15T>G |