Linked Data
ClinVar Variation Id:
103366
ClinVar RCV Id:
RCV000089626
dbSNP Id:
rs199476282
gnomAD v3:
16-3556662-G-A
gnomAD v4:
16-3556662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3556662G>A , CM000678.2:g.3556662G>A | GRCh38 |
| NC_000016.9:g.3606663G>A , CM000678.1:g.3606663G>A | GRCh37 |
| NC_000016.8:g.3546664G>A | NCBI36 |
| NG_033123.1:g.25730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2183+249C>T MANE Select | ENSP00000352039.6:n.2183+249C>T | |
| ENST00000324659.12:c.2324+249C>T | ENSP00000323897.9:n.2324+249C>T | |
| ENST00000359128.9:c.2183+249C>T | ENSP00000352039.6:n.2183+249C>T | |
| ENST00000448023.6:c.2183+249C>T | ENSP00000414415.3:n.2183+249C>T | |
| ENST00000615877.4:c.2183+249C>T | ENSP00000482989.1:n.2183+249C>T | |
| ENST00000618137.1:c.84+249C>T | ||
| NM_178844.3:c.2183+249C>T | NP_849172.2:n.2183+249C>T | |
| NR_075083.2:n.2668+249C>T | ||
| XM_011522416.1:c.2183+249C>T | XP_011520718.1:n.2183+249C>T | |
| XM_011522417.1:c.2183+249C>T | XP_011520719.1:n.2183+249C>T | |
| XM_011522418.1:c.2183+249C>T | XP_011520720.1:n.2183+249C>T | |
| XM_011522419.1:c.2183+249C>T | XP_011520721.1:n.2183+249C>T | |
| XM_011522420.1:c.2183+249C>T | XP_011520722.1:n.2183+249C>T | |
| XM_011522421.1:c.2183+249C>T | XP_011520723.1:n.2183+249C>T | |
| XM_011522422.1:c.2183+249C>T | XP_011520724.1:n.2183+249C>T | |
| XM_011522423.1:c.2183+249C>T | XP_011520725.1:n.2183+249C>T | |
| XR_243342.2:n.502-737G>A | ||
| XR_933023.1:n.502-737G>A | ||
| XR_933024.1:n.467-737G>A | ||
| XR_933025.1:n.412-737G>A | ||
| XM_017023027.2:c.2210+249C>T | XP_016878516.1:n.2210+249C>T | |
| XM_017023028.2:c.2210+249C>T | XP_016878517.1:n.2210+249C>T | |
| XM_017023029.2:c.2210+249C>T | XP_016878518.1:n.2210+249C>T | |
| XM_017023030.2:c.2210+249C>T | XP_016878519.1:n.2210+249C>T | |
| XM_017023031.2:c.2210+249C>T | XP_016878520.1:n.2210+249C>T | |
| XM_017023033.2:c.2210+249C>T | XP_016878522.1:n.2210+249C>T | |
| XM_017023034.2:c.2210+249C>T | XP_016878523.1:n.2210+249C>T | |
| XM_017023035.2:c.2210+249C>T | XP_016878524.1:n.2210+249C>T | |
| XM_017023036.2:c.2210+249C>T | XP_016878525.1:n.2210+249C>T | |
| XM_017023037.2:c.2105+249C>T | XP_016878526.1:n.2105+249C>T | |
| XM_017023038.2:c.2078+249C>T | XP_016878527.1:n.2078+249C>T | |
| XM_017023039.1:c.2210+249C>T | XP_016878528.1:n.2210+249C>T | |
| XR_001752059.2:n.2498-737G>A | ||
| XR_001752060.2:n.2498-737G>A | ||
| NM_178844.4:c.2183+249C>T MANE Select | NP_849172.2:n.2183+249C>T | |
| NR_075083.3:n.2667+249C>T |