Linked Data
ClinVar Variation Id:
1265453
ClinVar RCV Id:
RCV001667979
dbSNP Id:
rs895669
gnomAD v2:
18-46570662-C-T
gnomAD v3:
18-49044292-C-T
gnomAD v4:
18-49044292-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49044292C>T , CM000680.2:g.49044292C>T | GRCh38 |
| NC_000018.9:g.46570662C>T , CM000680.1:g.46570662C>T | GRCh37 |
| NC_000018.8:g.44824660C>T | NCBI36 |
| NG_009239.1:g.421418G>A | |
| NG_009239.2:g.421442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.2026-88G>A (DYM) MANE Select | ENSP00000501694.1:n.2026-88G>A | |
| ENST00000269445.10:c.1861-88G>A (DYM) | ENSP00000269445.6:n.1861-88G>A | |
| ENST00000442713.6:c.1291-88G>A (DYM) | ENSP00000395942.2:n.1291-88G>A | |
| ENST00000577734.1:c.188-88G>A (DYM) | ||
| NM_017653.3:c.1861-88G>A (DYM) | NP_060123.3:n.1861-88G>A | |
| XM_006722488.2:c.1956-88G>A (DYM) | XP_006722551.1:n.1956-88G>A | |
| XM_011526036.1:c.1979-88G>A (DYM) | XP_011524338.1:n.1979-88G>A | |
| XM_011526037.1:c.1976-88G>A (DYM) | XP_011524339.1:n.1976-88G>A | |
| XM_011526038.1:c.1976-88G>A (DYM) | XP_011524340.1:n.1976-88G>A | |
| XM_011526040.1:c.1811-88G>A (DYM) | XP_011524342.1:n.1811-88G>A | |
| XM_011526041.1:c.1796-88G>A (DYM) | XP_011524343.1:n.1796-88G>A | |
| XR_935459.1:n.153-3836C>T (DYM-AS1) | ||
| NM_001353210.1:c.1858-88G>A (DYM) | NP_001340139.1:n.1858-88G>A | |
| NM_001353211.1:c.1858-88G>A (DYM) | NP_001340140.1:n.1858-88G>A | |
| NM_001353212.1:c.2023-88G>A (DYM) | NP_001340141.1:n.2023-88G>A | |
| NM_001353213.1:c.2023-88G>A (DYM) | NP_001340142.1:n.2023-88G>A | |
| NM_001353214.1:c.2026-88G>A (DYM) | NP_001340143.1:n.2026-88G>A | |
| NM_001353215.1:c.1843-88G>A (DYM) | NP_001340144.1:n.1843-88G>A | |
| NM_001353216.1:c.1678-88G>A (DYM) | NP_001340145.1:n.1678-88G>A | |
| NM_017653.4:c.1861-88G>A (DYM) | NP_060123.3:n.1861-88G>A | |
| NR_148999.1:n.313-3836C>T (DYM-AS1) | ||
| XM_006722488.3:c.1956-88G>A (DYM) | XP_006722551.1:n.1956-88G>A | |
| XM_011526036.2:c.1979-88G>A (DYM) | XP_011524338.1:n.1979-88G>A | |
| XM_011526038.2:c.1976-88G>A (DYM) | XP_011524340.1:n.1976-88G>A | |
| XM_011526041.2:c.1796-88G>A (DYM) | XP_011524343.1:n.1796-88G>A | |
| XM_017025795.1:c.1973-88G>A (DYM) | XP_016881284.1:n.1973-88G>A | |
| XM_017025796.2:c.1799-88G>A (DYM) | XP_016881285.1:n.1799-88G>A | |
| XM_017025800.2:c.1675-88G>A (DYM) | XP_016881289.1:n.1675-88G>A | |
| XM_017025801.1:c.1672-88G>A (DYM) | XP_016881290.1:n.1672-88G>A | |
| XR_002958177.1:n.2326-88G>A (DYM) | ||
| NM_001353210.3:c.1858-88G>A (DYM) | NP_001340139.1:n.1858-88G>A | |
| NM_001353211.3:c.1858-88G>A (DYM) | NP_001340140.1:n.1858-88G>A | |
| NM_001353212.3:c.2023-88G>A (DYM) | NP_001340141.1:n.2023-88G>A | |
| NM_001353213.3:c.2023-88G>A (DYM) | NP_001340142.1:n.2023-88G>A | |
| NM_001353214.3:c.2026-88G>A (DYM) MANE Select | NP_001340143.1:n.2026-88G>A | |
| NM_001353215.3:c.1843-88G>A (DYM) | NP_001340144.1:n.1843-88G>A | |
| NM_001353216.3:c.1678-88G>A (DYM) | NP_001340145.1:n.1678-88G>A | |
| NM_001374428.1:c.2026-88G>A (DYM) | NP_001361357.1:n.2026-88G>A | |
| NM_001374429.1:c.2020-88G>A (DYM) | NP_001361358.1:n.2020-88G>A | |
| NM_001374430.1:c.2121-88G>A (DYM) | NP_001361359.1:n.2121-88G>A | |
| NM_001374431.1:c.1912-88G>A (DYM) | NP_001361360.1:n.1912-88G>A | |
| NM_001374432.1:c.1900-88G>A (DYM) | NP_001361361.1:n.1900-88G>A | |
| NM_001374433.1:c.1956-88G>A (DYM) | NP_001361362.1:n.1956-88G>A | |
| NM_001374434.1:c.1747-88G>A (DYM) | NP_001361363.1:n.1747-88G>A | |
| NM_001374435.1:c.1744-88G>A (DYM) | NP_001361364.1:n.1744-88G>A | |
| NM_001374436.1:c.1735-88G>A (DYM) | NP_001361365.1:n.1735-88G>A | |
| NM_001374437.1:c.1678-88G>A (DYM) | NP_001361366.1:n.1678-88G>A | |
| NM_001374438.1:c.1675-88G>A (DYM) | NP_001361367.1:n.1675-88G>A | |
| NM_001374439.1:c.1672-88G>A (DYM) | NP_001361368.1:n.1672-88G>A | |
| NM_001374440.1:c.1633-88G>A (DYM) | NP_001361369.1:n.1633-88G>A | |
| NM_001374441.1:c.1456-88G>A (DYM) | NP_001361370.1:n.1456-88G>A | |
| NM_001374442.1:c.1291-88G>A (DYM) | NP_001361371.1:n.1291-88G>A | |
| NM_001374443.1:c.1288-88G>A (DYM) | NP_001361372.1:n.1288-88G>A | |
| NM_001374444.1:c.1108-88G>A (DYM) | NP_001361373.1:n.1108-88G>A | |
| NM_017653.6:c.1861-88G>A (DYM) | NP_060123.3:n.1861-88G>A |