Linked Data
ClinVar Variation Id:
132884
ClinVar RCV Id:
RCV000119321
dbSNP Id:
rs190122309
gnomAD v2:
16-3594380-T-C
gnomAD v3:
16-3544380-T-C
gnomAD v4:
16-3544380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3544380T>C , CM000678.2:g.3544380T>C | GRCh38 |
| NC_000016.9:g.3594380T>C , CM000678.1:g.3594380T>C | GRCh37 |
| NC_000016.8:g.3534381T>C | NCBI36 |
| NG_033123.1:g.38012A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2772-51A>G MANE Select | ENSP00000352039.6:n.2772-51A>G | |
| ENST00000324659.12:c.2913-51A>G | ENSP00000323897.9:n.2913-51A>G | |
| ENST00000359128.9:c.2772-51A>G | ENSP00000352039.6:n.2772-51A>G | |
| ENST00000448023.6:c.2772-51A>G | ENSP00000414415.3:n.2772-51A>G | |
| ENST00000615877.4:c.*622-51A>G | ENSP00000482989.1:n.*622-51A>G | |
| NM_178844.3:c.2772-51A>G | NP_849172.2:n.2772-51A>G | |
| NR_075083.2:n.3393-51A>G | ||
| XM_011522416.1:c.2772-51A>G | XP_011520718.1:n.2772-51A>G | |
| XM_011522417.1:c.2772-51A>G | XP_011520719.1:n.2772-51A>G | |
| XM_011522418.1:c.2772-51A>G | XP_011520720.1:n.2772-51A>G | |
| XM_011522419.1:c.2772-51A>G | XP_011520721.1:n.2772-51A>G | |
| XM_011522420.1:c.2772-51A>G | XP_011520722.1:n.2772-51A>G | |
| XM_011522421.1:c.2772-51A>G | XP_011520723.1:n.2772-51A>G | |
| XM_011522422.1:c.2772-51A>G | XP_011520724.1:n.2772-51A>G | |
| XR_243342.2:n.387-1504T>C | ||
| XR_933023.1:n.387-1504T>C | ||
| XR_933024.1:n.352-1504T>C | ||
| XR_933025.1:n.297-1504T>C | ||
| XM_017023027.2:c.2799-51A>G | XP_016878516.1:n.2799-51A>G | |
| XM_017023028.2:c.2799-51A>G | XP_016878517.1:n.2799-51A>G | |
| XM_017023029.2:c.2799-51A>G | XP_016878518.1:n.2799-51A>G | |
| XM_017023030.2:c.2799-51A>G | XP_016878519.1:n.2799-51A>G | |
| XM_017023031.2:c.2799-51A>G | XP_016878520.1:n.2799-51A>G | |
| XM_017023033.2:c.2799-51A>G | XP_016878522.1:n.2799-51A>G | |
| XM_017023034.2:c.2799-51A>G | XP_016878523.1:n.2799-51A>G | |
| XM_017023035.2:c.2799-51A>G | XP_016878524.1:n.2799-51A>G | |
| XM_017023036.2:c.2799-51A>G | XP_016878525.1:n.2799-51A>G | |
| XM_017023037.2:c.2694-51A>G | XP_016878526.1:n.2694-51A>G | |
| XM_017023038.2:c.2667-51A>G | XP_016878527.1:n.2667-51A>G | |
| XM_017023039.1:c.*46-51A>G | XP_016878528.1:n.*46-51A>G | |
| XR_001752059.2:n.879T>C | ||
| XR_001752060.2:n.879T>C | ||
| NM_178844.4:c.2772-51A>G MANE Select | NP_849172.2:n.2772-51A>G | |
| NR_075083.3:n.3392-51A>G |