Linked Data
ClinVar Variation Id:
103367
ClinVar RCV Id:
RCV000089627
dbSNP Id:
rs199476283
gnomAD v2:
16-3606538-C-G
gnomAD v3:
16-3556537-C-G
gnomAD v4:
16-3556537-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3556537C>G , CM000678.2:g.3556537C>G | GRCh38 |
| NC_000016.9:g.3606538C>G , CM000678.1:g.3606538C>G | GRCh37 |
| NC_000016.8:g.3546539C>G | NCBI36 |
| NG_033123.1:g.25855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2183+374G>C MANE Select | ENSP00000352039.6:n.2183+374G>C | |
| ENST00000324659.12:c.2324+374G>C | ENSP00000323897.9:n.2324+374G>C | |
| ENST00000359128.9:c.2183+374G>C | ENSP00000352039.6:n.2183+374G>C | |
| ENST00000448023.6:c.2183+374G>C | ENSP00000414415.3:n.2183+374G>C | |
| ENST00000615877.4:c.2183+374G>C | ENSP00000482989.1:n.2183+374G>C | |
| ENST00000618137.1:c.84+374G>C | ||
| NM_178844.3:c.2183+374G>C | NP_849172.2:n.2183+374G>C | |
| NR_075083.2:n.2668+374G>C | ||
| XM_011522416.1:c.2183+374G>C | XP_011520718.1:n.2183+374G>C | |
| XM_011522417.1:c.2183+374G>C | XP_011520719.1:n.2183+374G>C | |
| XM_011522418.1:c.2183+374G>C | XP_011520720.1:n.2183+374G>C | |
| XM_011522419.1:c.2183+374G>C | XP_011520721.1:n.2183+374G>C | |
| XM_011522420.1:c.2183+374G>C | XP_011520722.1:n.2183+374G>C | |
| XM_011522421.1:c.2183+374G>C | XP_011520723.1:n.2183+374G>C | |
| XM_011522422.1:c.2183+374G>C | XP_011520724.1:n.2183+374G>C | |
| XM_011522423.1:c.2183+374G>C | XP_011520725.1:n.2183+374G>C | |
| XR_243342.2:n.502-862C>G | ||
| XR_933023.1:n.502-862C>G | ||
| XR_933024.1:n.467-862C>G | ||
| XR_933025.1:n.412-862C>G | ||
| XM_017023027.2:c.2210+374G>C | XP_016878516.1:n.2210+374G>C | |
| XM_017023028.2:c.2210+374G>C | XP_016878517.1:n.2210+374G>C | |
| XM_017023029.2:c.2210+374G>C | XP_016878518.1:n.2210+374G>C | |
| XM_017023030.2:c.2210+374G>C | XP_016878519.1:n.2210+374G>C | |
| XM_017023031.2:c.2210+374G>C | XP_016878520.1:n.2210+374G>C | |
| XM_017023033.2:c.2210+374G>C | XP_016878522.1:n.2210+374G>C | |
| XM_017023034.2:c.2210+374G>C | XP_016878523.1:n.2210+374G>C | |
| XM_017023035.2:c.2210+374G>C | XP_016878524.1:n.2210+374G>C | |
| XM_017023036.2:c.2210+374G>C | XP_016878525.1:n.2210+374G>C | |
| XM_017023037.2:c.2105+374G>C | XP_016878526.1:n.2105+374G>C | |
| XM_017023038.2:c.2078+374G>C | XP_016878527.1:n.2078+374G>C | |
| XM_017023039.1:c.2210+374G>C | XP_016878528.1:n.2210+374G>C | |
| XR_001752059.2:n.2498-862C>G | ||
| XR_001752060.2:n.2498-862C>G | ||
| NM_178844.4:c.2183+374G>C MANE Select | NP_849172.2:n.2183+374G>C | |
| NR_075083.3:n.2667+374G>C |