Linked Data
ClinVar Variation Id:
326889
dbSNP Id:
rs757286463
ExAC:
18:46570547 C / T
gnomAD v2:
18-46570547-C-T
gnomAD v4:
18-49044177-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49044177C>T , CM000680.2:g.49044177C>T | GRCh38 |
| NC_000018.9:g.46570547C>T , CM000680.1:g.46570547C>T | GRCh37 |
| NC_000018.8:g.44824545C>T | NCBI36 |
| NG_009239.1:g.421533G>A | |
| NG_009239.2:g.421557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.2053G>A (DYM) MANE Select | ENSP00000501694.1:p.Val685Met | |
| ENST00000269445.10:c.1888G>A (DYM) | ENSP00000269445.6:p.Val630Met | |
| ENST00000442713.6:c.1318G>A (DYM) | ENSP00000395942.2:p.Val440Met | |
| ENST00000577734.1:c.215G>A (DYM) | ||
| NM_017653.3:c.1888G>A (DYM) | NP_060123.3:p.Val630Met | |
| XM_006722488.2:c.*12G>A (DYM) | XP_006722551.1:n.*12G>A | |
| XM_011526036.1:c.2006G>A (DYM) | XP_011524338.1:p.Cys669Tyr | |
| XM_011526037.1:c.2003G>A (DYM) | XP_011524339.1:p.Cys668Tyr | |
| XM_011526038.1:c.2003G>A (DYM) | XP_011524340.1:p.Cys668Tyr | |
| XM_011526040.1:c.1838G>A (DYM) | XP_011524342.1:p.Cys613Tyr | |
| XM_011526041.1:c.1823G>A (DYM) | XP_011524343.1:p.Cys608Tyr | |
| XR_935459.1:n.153-3951C>T (DYM-AS1) | ||
| NM_001353210.1:c.1885G>A (DYM) | NP_001340139.1:p.Val629Met | |
| NM_001353211.1:c.1885G>A (DYM) | NP_001340140.1:p.Val629Met | |
| NM_001353212.1:c.2050G>A (DYM) | NP_001340141.1:p.Val684Met | |
| NM_001353213.1:c.2050G>A (DYM) | NP_001340142.1:p.Val684Met | |
| NM_001353214.1:c.2053G>A (DYM) | NP_001340143.1:p.Val685Met | |
| NM_001353215.1:c.1870G>A (DYM) | NP_001340144.1:p.Val624Met | |
| NM_001353216.1:c.1705G>A (DYM) | NP_001340145.1:p.Val569Met | |
| NM_017653.4:c.1888G>A (DYM) | NP_060123.3:p.Val630Met | |
| NR_148999.1:n.313-3951C>T (DYM-AS1) | ||
| XM_006722488.3:c.*12G>A (DYM) | XP_006722551.1:n.*12G>A | |
| XM_011526036.2:c.2006G>A (DYM) | XP_011524338.1:p.Cys669Tyr | |
| XM_011526038.2:c.2003G>A (DYM) | XP_011524340.1:p.Cys668Tyr | |
| XM_011526041.2:c.1823G>A (DYM) | XP_011524343.1:p.Cys608Tyr | |
| XM_017025795.1:c.2000G>A (DYM) | XP_016881284.1:p.Cys667Tyr | |
| XM_017025796.2:c.1826G>A (DYM) | XP_016881285.1:p.Cys609Tyr | |
| XM_017025800.2:c.1702G>A (DYM) | XP_016881289.1:p.Val568Met | |
| XM_017025801.1:c.1699G>A (DYM) | XP_016881290.1:p.Val567Met | |
| XR_002958177.1:n.2353G>A (DYM) | ||
| NM_001353210.3:c.1885G>A (DYM) | NP_001340139.1:p.Val629Met | |
| NM_001353211.3:c.1885G>A (DYM) | NP_001340140.1:p.Val629Met | |
| NM_001353212.3:c.2050G>A (DYM) | NP_001340141.1:p.Val684Met | |
| NM_001353213.3:c.2050G>A (DYM) | NP_001340142.1:p.Val684Met | |
| NM_001353214.3:c.2053G>A (DYM) MANE Select | NP_001340143.1:p.Val685Met | |
| NM_001353215.3:c.1870G>A (DYM) | NP_001340144.1:p.Val624Met | |
| NM_001353216.3:c.1705G>A (DYM) | NP_001340145.1:p.Val569Met | |
| NM_001374428.1:c.2053G>A (DYM) | NP_001361357.1:p.Val685Met | |
| NM_001374429.1:c.2047G>A (DYM) | NP_001361358.1:p.Val683Met | |
| NM_001374430.1:c.*12G>A (DYM) | NP_001361359.1:n.*12G>A | |
| NM_001374431.1:c.1939G>A (DYM) | NP_001361360.1:p.Val647Met | |
| NM_001374432.1:c.1927G>A (DYM) | NP_001361361.1:p.Val643Met | |
| NM_001374433.1:c.*12G>A (DYM) | NP_001361362.1:n.*12G>A | |
| NM_001374434.1:c.1774G>A (DYM) | NP_001361363.1:p.Val592Met | |
| NM_001374435.1:c.1771G>A (DYM) | NP_001361364.1:p.Val591Met | |
| NM_001374436.1:c.1762G>A (DYM) | NP_001361365.1:p.Val588Met | |
| NM_001374437.1:c.1705G>A (DYM) | NP_001361366.1:p.Val569Met | |
| NM_001374438.1:c.1702G>A (DYM) | NP_001361367.1:p.Val568Met | |
| NM_001374439.1:c.1699G>A (DYM) | NP_001361368.1:p.Val567Met | |
| NM_001374440.1:c.1660G>A (DYM) | NP_001361369.1:p.Val554Met | |
| NM_001374441.1:c.1483G>A (DYM) | NP_001361370.1:p.Val495Met | |
| NM_001374442.1:c.1318G>A (DYM) | NP_001361371.1:p.Val440Met | |
| NM_001374443.1:c.1315G>A (DYM) | NP_001361372.1:p.Val439Met | |
| NM_001374444.1:c.1135G>A (DYM) | NP_001361373.1:p.Val379Met | |
| NM_017653.6:c.1888G>A (DYM) | NP_060123.3:p.Val630Met |