Linked Data
ClinVar Variation Id:
3086422
ClinVar RCV Id:
RCV004379816
dbSNP Id:
rs752418475
ExAC:
18:46570510 T / C
gnomAD v2:
18-46570510-T-C
gnomAD v4:
18-49044140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49044140T>C , CM000680.2:g.49044140T>C | GRCh38 |
| NC_000018.9:g.46570510T>C , CM000680.1:g.46570510T>C | GRCh37 |
| NC_000018.8:g.44824508T>C | NCBI36 |
| NG_009239.1:g.421570A>G | |
| NG_009239.2:g.421594A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.2090A>G (DYM) MANE Select | ENSP00000501694.1:p.Tyr697Cys | |
| ENST00000269445.10:c.1925A>G (DYM) | ENSP00000269445.6:p.Tyr642Cys | |
| ENST00000442713.6:c.1355A>G (DYM) | ENSP00000395942.2:p.Tyr452Cys | |
| ENST00000577734.1:c.252A>G (DYM) | ||
| NM_017653.3:c.1925A>G (DYM) | NP_060123.3:p.Tyr642Cys | |
| XM_006722488.2:c.*49A>G (DYM) | XP_006722551.1:n.*49A>G | |
| XM_011526036.1:c.2043A>G (DYM) | XP_011524338.1:p.Leu681= | |
| XM_011526037.1:c.2040A>G (DYM) | XP_011524339.1:p.Leu680= | |
| XM_011526038.1:c.2040A>G (DYM) | XP_011524340.1:p.Leu680= | |
| XM_011526040.1:c.1875A>G (DYM) | XP_011524342.1:p.Leu625= | |
| XM_011526041.1:c.1860A>G (DYM) | XP_011524343.1:p.Leu620= | |
| XR_935459.1:n.153-3988T>C (DYM-AS1) | ||
| NM_001353210.1:c.1922A>G (DYM) | NP_001340139.1:p.Tyr641Cys | |
| NM_001353211.1:c.1922A>G (DYM) | NP_001340140.1:p.Tyr641Cys | |
| NM_001353212.1:c.2087A>G (DYM) | NP_001340141.1:p.Tyr696Cys | |
| NM_001353213.1:c.2087A>G (DYM) | NP_001340142.1:p.Tyr696Cys | |
| NM_001353214.1:c.2090A>G (DYM) | NP_001340143.1:p.Tyr697Cys | |
| NM_001353215.1:c.1907A>G (DYM) | NP_001340144.1:p.Tyr636Cys | |
| NM_001353216.1:c.1742A>G (DYM) | NP_001340145.1:p.Tyr581Cys | |
| NM_017653.4:c.1925A>G (DYM) | NP_060123.3:p.Tyr642Cys | |
| NR_148999.1:n.313-3988T>C (DYM-AS1) | ||
| XM_006722488.3:c.*49A>G (DYM) | XP_006722551.1:n.*49A>G | |
| XM_011526036.2:c.2043A>G (DYM) | XP_011524338.1:p.Leu681= | |
| XM_011526038.2:c.2040A>G (DYM) | XP_011524340.1:p.Leu680= | |
| XM_011526041.2:c.1860A>G (DYM) | XP_011524343.1:p.Leu620= | |
| XM_017025795.1:c.2037A>G (DYM) | XP_016881284.1:p.Leu679= | |
| XM_017025796.2:c.1863A>G (DYM) | XP_016881285.1:p.Leu621= | |
| XM_017025800.2:c.1739A>G (DYM) | XP_016881289.1:p.Tyr580Cys | |
| XM_017025801.1:c.1736A>G (DYM) | XP_016881290.1:p.Tyr579Cys | |
| XR_002958177.1:n.2390A>G (DYM) | ||
| NM_001353210.3:c.1922A>G (DYM) | NP_001340139.1:p.Tyr641Cys | |
| NM_001353211.3:c.1922A>G (DYM) | NP_001340140.1:p.Tyr641Cys | |
| NM_001353212.3:c.2087A>G (DYM) | NP_001340141.1:p.Tyr696Cys | |
| NM_001353213.3:c.2087A>G (DYM) | NP_001340142.1:p.Tyr696Cys | |
| NM_001353214.3:c.2090A>G (DYM) MANE Select | NP_001340143.1:p.Tyr697Cys | |
| NM_001353215.3:c.1907A>G (DYM) | NP_001340144.1:p.Tyr636Cys | |
| NM_001353216.3:c.1742A>G (DYM) | NP_001340145.1:p.Tyr581Cys | |
| NM_001374428.1:c.2090A>G (DYM) | NP_001361357.1:p.Tyr697Cys | |
| NM_001374429.1:c.2084A>G (DYM) | NP_001361358.1:p.Tyr695Cys | |
| NM_001374430.1:c.*49A>G (DYM) | NP_001361359.1:n.*49A>G | |
| NM_001374431.1:c.1976A>G (DYM) | NP_001361360.1:p.Tyr659Cys | |
| NM_001374432.1:c.1964A>G (DYM) | NP_001361361.1:p.Tyr655Cys | |
| NM_001374433.1:c.*49A>G (DYM) | NP_001361362.1:n.*49A>G | |
| NM_001374434.1:c.1811A>G (DYM) | NP_001361363.1:p.Tyr604Cys | |
| NM_001374435.1:c.1808A>G (DYM) | NP_001361364.1:p.Tyr603Cys | |
| NM_001374436.1:c.1799A>G (DYM) | NP_001361365.1:p.Tyr600Cys | |
| NM_001374437.1:c.1742A>G (DYM) | NP_001361366.1:p.Tyr581Cys | |
| NM_001374438.1:c.1739A>G (DYM) | NP_001361367.1:p.Tyr580Cys | |
| NM_001374439.1:c.1736A>G (DYM) | NP_001361368.1:p.Tyr579Cys | |
| NM_001374440.1:c.1697A>G (DYM) | NP_001361369.1:p.Tyr566Cys | |
| NM_001374441.1:c.1520A>G (DYM) | NP_001361370.1:p.Tyr507Cys | |
| NM_001374442.1:c.1355A>G (DYM) | NP_001361371.1:p.Tyr452Cys | |
| NM_001374443.1:c.1352A>G (DYM) | NP_001361372.1:p.Tyr451Cys | |
| NM_001374444.1:c.1172A>G (DYM) | NP_001361373.1:p.Tyr391Cys | |
| NM_017653.6:c.1925A>G (DYM) | NP_060123.3:p.Tyr642Cys |