Linked Data
ClinVar Variation Id:
451932
ClinVar RCV Id:
RCV000522871
RCV000764657
RCV001170909
RCV001375634
RCV001212813
RCV002384015
RCV003403239
RCV004003635
dbSNP Id:
rs140403872
ExAC:
6:7542285 G / A
gnomAD v2:
6-7542285-G-A
gnomAD v3:
6-7542052-G-A
gnomAD v4:
6-7542052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7542052G>A , CM000668.2:g.7542052G>A | GRCh38 |
| NC_000006.11:g.7542285G>A , CM000668.1:g.7542285G>A | GRCh37 |
| NC_000006.10:g.7487284G>A | NCBI36 |
| NG_008803.1:g.5416G>A , LRG_423:g.5416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.137G>A (DSP) | ENSP00000508162.2:p.Gly46Asp | |
| ENST00000710359.1:c.137G>A (DSP) | ENSP00000518230.1:p.Gly46Asp | |
| ENST00000683563.1:n.29G>A (DSP) | ||
| ENST00000683682.1:c.32G>A (DSP) | ENSP00000508162.1:p.Gly11Asp | |
| ENST00000379802.8:c.137G>A (DSP) MANE Select | ENSP00000369129.3:p.Gly46Asp | |
| ENST00000379802.7:c.137G>A (DSP) | ENSP00000369129.3:p.Gly46Asp | |
| ENST00000418664.2:c.137G>A (DSP) | ENSP00000396591.2:p.Gly46Asp | |
| NM_001008844.1:c.137G>A (DSP) | NP_001008844.1:p.Gly46Asp | |
| NM_004415.2:c.137G>A , LRG_423t1:c.137G>A (DSP) | NP_004406.2:p.Gly46Asp | |
| XM_011514323.1:c.137G>A (DSP) | XP_011512625.1:p.Gly46Asp | |
| XR_241971.2:n.268+719C>T (DSP-AS1) | ||
| NM_001008844.2:c.137G>A (DSP) | NP_001008844.1:p.Gly46Asp | |
| NM_001319034.1:c.137G>A (DSP) | NP_001305963.1:p.Gly46Asp | |
| NM_004415.3:c.137G>A (DSP) | NP_004406.2:p.Gly46Asp | |
| XR_241971.3:n.269+719C>T (DSP-AS1) | ||
| NM_004415.4:c.137G>A (DSP) MANE Select | NP_004406.2:p.Gly46Asp | |
| NM_001008844.3:c.137G>A (DSP) | NP_001008844.1:p.Gly46Asp | |
| NM_001319034.2:c.137G>A (DSP) | NP_001305963.1:p.Gly46Asp |