Linked Data
dbSNP Id:
rs748251284
ExAC:
20:13782362 C / T
gnomAD v2:
20-13782362-C-T
gnomAD v4:
20-13801716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801716C>T , CM000682.2:g.13801716C>T | GRCh38 |
| NC_000020.10:g.13782362C>T , CM000682.1:g.13782362C>T | GRCh37 |
| NC_000020.9:g.13730362C>T | NCBI36 |
| NG_015811.1:g.21691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.717+33C>T MANE Select | ENSP00000367346.5:n.717+33C>T | |
| ENST00000378081.9:c.717+33C>T | ENSP00000437325.1:n.717+33C>T | |
| ENST00000378106.9:c.717+33C>T | ENSP00000367346.5:n.717+33C>T | |
| ENST00000463598.1:c.633+33C>T | ENSP00000420497.1:n.633+33C>T | |
| ENST00000464269.5:n.390+33C>T | ||
| ENST00000475968.5:n.594+33C>T | ||
| ENST00000476124.1:n.116+33C>T | ||
| ENST00000476536.5:n.677+33C>T | ||
| ENST00000477732.5:n.502+3216C>T | ||
| ENST00000479716.5:n.238+33C>T | ||
| ENST00000481249.5:n.594+33C>T | ||
| ENST00000485738.5:n.694+33C>T | ||
| ENST00000487478.5:n.141+33C>T | ||
| NM_001039375.2:c.633+33C>T | NP_001034464.1:n.633+33C>T | |
| NM_024120.4:c.717+33C>T | NP_077025.2:n.717+33C>T | |
| NR_029377.1:n.760+33C>T | ||
| XM_006723620.2:c.717+33C>T | XP_006723683.1:n.717+33C>T | |
| XM_006723622.2:c.246+33C>T | XP_006723685.1:n.246+33C>T | |
| XM_006723623.1:c.246+33C>T | XP_006723686.1:n.246+33C>T | |
| XM_006723624.1:c.246+33C>T | XP_006723687.1:n.246+33C>T | |
| XM_011529341.1:c.717+33C>T | XP_011527643.1:n.717+33C>T | |
| XM_011529342.1:c.717+33C>T | XP_011527644.1:n.717+33C>T | |
| XM_011529343.1:c.717+33C>T | XP_011527645.1:n.717+33C>T | |
| XM_011529344.1:c.348+33C>T | XP_011527646.1:n.348+33C>T | |
| XR_430269.2:n.737+33C>T | ||
| XR_937140.1:n.737+33C>T | ||
| NM_001352403.1:c.246+33C>T | NP_001339332.1:n.246+33C>T | |
| NM_001352406.1:c.156+33C>T | NP_001339335.1:n.156+33C>T | |
| NM_001352407.1:c.156+33C>T | NP_001339336.1:n.156+33C>T | |
| NM_001352408.1:c.717+33C>T | NP_001339337.1:n.717+33C>T | |
| NR_147978.1:n.760+33C>T | ||
| NR_147979.1:n.780+33C>T | ||
| NR_147980.1:n.656+33C>T | ||
| NR_147981.1:n.894+33C>T | ||
| NR_147982.1:n.894+33C>T | ||
| NR_147983.1:n.810+33C>T | ||
| XM_006723624.2:c.246+33C>T | XP_006723687.1:n.246+33C>T | |
| XM_011529342.2:c.717+33C>T | XP_011527644.1:n.717+33C>T | |
| XM_024451999.1:c.246+33C>T | XP_024307767.1:n.246+33C>T | |
| XR_001754396.1:n.676+33C>T | ||
| XR_430269.3:n.737+33C>T | ||
| XR_937140.2:n.737+33C>T | ||
| NM_024120.5:c.717+33C>T MANE Select | NP_077025.2:n.717+33C>T | |
| NM_001039375.3:c.633+33C>T | NP_001034464.1:n.633+33C>T | |
| NM_001352403.2:c.246+33C>T | NP_001339332.1:n.246+33C>T | |
| NM_001352406.2:c.156+33C>T | NP_001339335.1:n.156+33C>T | |
| NM_001352407.2:c.156+33C>T | NP_001339336.1:n.156+33C>T | |
| NR_029377.2:n.758+33C>T | ||
| NR_147978.2:n.758+33C>T | ||
| NR_147979.2:n.778+33C>T | ||
| NR_147980.2:n.654+33C>T | ||
| NR_147981.2:n.892+33C>T | ||
| NR_147982.2:n.892+33C>T | ||
| NR_147983.2:n.808+33C>T | ||
| NM_001352408.2:c.717+33C>T | NP_001339337.1:n.717+33C>T |