Linked Data
ClinVar Variation Id:
103368
ClinVar RCV Id:
RCV000089628
dbSNP Id:
rs199476285
gnomAD v3:
16-3554573-A-C
gnomAD v4:
16-3554573-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3554573A>C , CM000678.2:g.3554573A>C | GRCh38 |
| NC_000016.9:g.3604574A>C , CM000678.1:g.3604574A>C | GRCh37 |
| NC_000016.8:g.3544575A>C | NCBI36 |
| NG_033123.1:g.27819T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2184-248T>G MANE Select | ENSP00000352039.6:n.2184-248T>G | |
| ENST00000324659.12:c.2325-248T>G | ENSP00000323897.9:n.2325-248T>G | |
| ENST00000359128.9:c.2184-248T>G | ENSP00000352039.6:n.2184-248T>G | |
| ENST00000448023.6:c.2184-248T>G | ENSP00000414415.3:n.2184-248T>G | |
| ENST00000615877.4:c.*34-248T>G | ENSP00000482989.1:n.*34-248T>G | |
| ENST00000618137.1:c.85-248T>G | ||
| NM_178844.3:c.2184-248T>G | NP_849172.2:n.2184-248T>G | |
| NR_075083.2:n.2805-248T>G | ||
| XM_011522416.1:c.2184-248T>G | XP_011520718.1:n.2184-248T>G | |
| XM_011522417.1:c.2184-248T>G | XP_011520719.1:n.2184-248T>G | |
| XM_011522418.1:c.2184-248T>G | XP_011520720.1:n.2184-248T>G | |
| XM_011522419.1:c.2184-248T>G | XP_011520721.1:n.2184-248T>G | |
| XM_011522420.1:c.2184-248T>G | XP_011520722.1:n.2184-248T>G | |
| XM_011522421.1:c.2184-248T>G | XP_011520723.1:n.2184-248T>G | |
| XM_011522422.1:c.2184-248T>G | XP_011520724.1:n.2184-248T>G | |
| XM_011522423.1:c.2184-248T>G | XP_011520725.1:n.2184-248T>G | |
| XR_243342.2:n.502-2826A>C | ||
| XR_933023.1:n.502-2826A>C | ||
| XR_933024.1:n.467-2826A>C | ||
| XR_933025.1:n.412-2826A>C | ||
| XM_017023027.2:c.2211-248T>G | XP_016878516.1:n.2211-248T>G | |
| XM_017023028.2:c.2211-248T>G | XP_016878517.1:n.2211-248T>G | |
| XM_017023029.2:c.2211-248T>G | XP_016878518.1:n.2211-248T>G | |
| XM_017023030.2:c.2211-248T>G | XP_016878519.1:n.2211-248T>G | |
| XM_017023031.2:c.2211-248T>G | XP_016878520.1:n.2211-248T>G | |
| XM_017023033.2:c.2211-248T>G | XP_016878522.1:n.2211-248T>G | |
| XM_017023034.2:c.2211-248T>G | XP_016878523.1:n.2211-248T>G | |
| XM_017023035.2:c.2211-248T>G | XP_016878524.1:n.2211-248T>G | |
| XM_017023036.2:c.2211-248T>G | XP_016878525.1:n.2211-248T>G | |
| XM_017023037.2:c.2106-248T>G | XP_016878526.1:n.2106-248T>G | |
| XM_017023038.2:c.2079-248T>G | XP_016878527.1:n.2079-248T>G | |
| XM_017023039.1:c.2211-248T>G | XP_016878528.1:n.2211-248T>G | |
| XR_001752059.2:n.2498-2826A>C | ||
| XR_001752060.2:n.2498-2826A>C | ||
| NM_178844.4:c.2184-248T>G MANE Select | NP_849172.2:n.2184-248T>G | |
| NR_075083.3:n.2804-248T>G |