Linked Data
ClinVar Variation Id:
2078682
dbSNP Id:
rs771418522
ExAC:
18:46570492 T / C
gnomAD v2:
18-46570492-T-C
gnomAD v3:
18-49044122-T-C
gnomAD v4:
18-49044122-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49044122T>C , CM000680.2:g.49044122T>C | GRCh38 |
| NC_000018.9:g.46570492T>C , CM000680.1:g.46570492T>C | GRCh37 |
| NC_000018.8:g.44824490T>C | NCBI36 |
| NG_009239.1:g.421588A>G | |
| NG_009239.2:g.421612A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.2108A>G (DYM) MANE Select | ENSP00000501694.1:p.Tyr703Cys | |
| ENST00000269445.10:c.1943A>G (DYM) | ENSP00000269445.6:p.Tyr648Cys | |
| ENST00000442713.6:c.1373A>G (DYM) | ENSP00000395942.2:p.Tyr458Cys | |
| ENST00000577734.1:c.270A>G (DYM) | ||
| NM_017653.3:c.1943A>G (DYM) | NP_060123.3:p.Tyr648Cys | |
| XM_006722488.2:c.*67A>G (DYM) | XP_006722551.1:n.*67A>G | |
| XM_011526036.1:c.2061A>G (DYM) | XP_011524338.1:p.Leu687= | |
| XM_011526037.1:c.2058A>G (DYM) | XP_011524339.1:p.Leu686= | |
| XM_011526038.1:c.2058A>G (DYM) | XP_011524340.1:p.Leu686= | |
| XM_011526040.1:c.1893A>G (DYM) | XP_011524342.1:p.Leu631= | |
| XM_011526041.1:c.1878A>G (DYM) | XP_011524343.1:p.Leu626= | |
| XR_935459.1:n.153-4006T>C (DYM-AS1) | ||
| NM_001353210.1:c.1940A>G (DYM) | NP_001340139.1:p.Tyr647Cys | |
| NM_001353211.1:c.1940A>G (DYM) | NP_001340140.1:p.Tyr647Cys | |
| NM_001353212.1:c.2105A>G (DYM) | NP_001340141.1:p.Tyr702Cys | |
| NM_001353213.1:c.2105A>G (DYM) | NP_001340142.1:p.Tyr702Cys | |
| NM_001353214.1:c.2108A>G (DYM) | NP_001340143.1:p.Tyr703Cys | |
| NM_001353215.1:c.1925A>G (DYM) | NP_001340144.1:p.Tyr642Cys | |
| NM_001353216.1:c.1760A>G (DYM) | NP_001340145.1:p.Tyr587Cys | |
| NM_017653.4:c.1943A>G (DYM) | NP_060123.3:p.Tyr648Cys | |
| NR_148999.1:n.313-4006T>C (DYM-AS1) | ||
| XM_006722488.3:c.*67A>G (DYM) | XP_006722551.1:n.*67A>G | |
| XM_011526036.2:c.2061A>G (DYM) | XP_011524338.1:p.Leu687= | |
| XM_011526038.2:c.2058A>G (DYM) | XP_011524340.1:p.Leu686= | |
| XM_011526041.2:c.1878A>G (DYM) | XP_011524343.1:p.Leu626= | |
| XM_017025795.1:c.2055A>G (DYM) | XP_016881284.1:p.Leu685= | |
| XM_017025796.2:c.1881A>G (DYM) | XP_016881285.1:p.Leu627= | |
| XM_017025800.2:c.1757A>G (DYM) | XP_016881289.1:p.Tyr586Cys | |
| XM_017025801.1:c.1754A>G (DYM) | XP_016881290.1:p.Tyr585Cys | |
| XR_002958177.1:n.2408A>G (DYM) | ||
| NM_001353210.3:c.1940A>G (DYM) | NP_001340139.1:p.Tyr647Cys | |
| NM_001353211.3:c.1940A>G (DYM) | NP_001340140.1:p.Tyr647Cys | |
| NM_001353212.3:c.2105A>G (DYM) | NP_001340141.1:p.Tyr702Cys | |
| NM_001353213.3:c.2105A>G (DYM) | NP_001340142.1:p.Tyr702Cys | |
| NM_001353214.3:c.2108A>G (DYM) MANE Select | NP_001340143.1:p.Tyr703Cys | |
| NM_001353215.3:c.1925A>G (DYM) | NP_001340144.1:p.Tyr642Cys | |
| NM_001353216.3:c.1760A>G (DYM) | NP_001340145.1:p.Tyr587Cys | |
| NM_001374428.1:c.2108A>G (DYM) | NP_001361357.1:p.Tyr703Cys | |
| NM_001374429.1:c.2102A>G (DYM) | NP_001361358.1:p.Tyr701Cys | |
| NM_001374430.1:c.*67A>G (DYM) | NP_001361359.1:n.*67A>G | |
| NM_001374431.1:c.1994A>G (DYM) | NP_001361360.1:p.Tyr665Cys | |
| NM_001374432.1:c.1982A>G (DYM) | NP_001361361.1:p.Tyr661Cys | |
| NM_001374433.1:c.*67A>G (DYM) | NP_001361362.1:n.*67A>G | |
| NM_001374434.1:c.1829A>G (DYM) | NP_001361363.1:p.Tyr610Cys | |
| NM_001374435.1:c.1826A>G (DYM) | NP_001361364.1:p.Tyr609Cys | |
| NM_001374436.1:c.1817A>G (DYM) | NP_001361365.1:p.Tyr606Cys | |
| NM_001374437.1:c.1760A>G (DYM) | NP_001361366.1:p.Tyr587Cys | |
| NM_001374438.1:c.1757A>G (DYM) | NP_001361367.1:p.Tyr586Cys | |
| NM_001374439.1:c.1754A>G (DYM) | NP_001361368.1:p.Tyr585Cys | |
| NM_001374440.1:c.1715A>G (DYM) | NP_001361369.1:p.Tyr572Cys | |
| NM_001374441.1:c.1538A>G (DYM) | NP_001361370.1:p.Tyr513Cys | |
| NM_001374442.1:c.1373A>G (DYM) | NP_001361371.1:p.Tyr458Cys | |
| NM_001374443.1:c.1370A>G (DYM) | NP_001361372.1:p.Tyr457Cys | |
| NM_001374444.1:c.1190A>G (DYM) | NP_001361373.1:p.Tyr397Cys | |
| NM_017653.6:c.1943A>G (DYM) | NP_060123.3:p.Tyr648Cys |