Linked Data
ClinVar Variation Id:
923801
dbSNP Id:
rs748578019
gnomAD v2:
6-7542265-G-T
gnomAD v3:
6-7542032-G-T
gnomAD v4:
6-7542032-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7542032G>T , CM000668.2:g.7542032G>T | GRCh38 |
| NC_000006.11:g.7542265G>T , CM000668.1:g.7542265G>T | GRCh37 |
| NC_000006.10:g.7487264G>T | NCBI36 |
| NG_008803.1:g.5396G>T , LRG_423:g.5396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.117G>T (DSP) | ENSP00000508162.2:p.Arg39Ser | |
| ENST00000710359.1:c.117G>T (DSP) | ENSP00000518230.1:p.Arg39Ser | |
| ENST00000683563.1:n.9G>T (DSP) | ||
| ENST00000683682.1:c.12G>T (DSP) | ENSP00000508162.1:p.Arg4Ser | |
| ENST00000379802.8:c.117G>T (DSP) MANE Select | ENSP00000369129.3:p.Arg39Ser | |
| ENST00000379802.7:c.117G>T (DSP) | ENSP00000369129.3:p.Arg39Ser | |
| ENST00000418664.2:c.117G>T (DSP) | ENSP00000396591.2:p.Arg39Ser | |
| NM_001008844.1:c.117G>T (DSP) | NP_001008844.1:p.Arg39Ser | |
| NM_004415.2:c.117G>T , LRG_423t1:c.117G>T (DSP) | NP_004406.2:p.Arg39Ser | |
| XM_011514323.1:c.117G>T (DSP) | XP_011512625.1:p.Arg39Ser | |
| XR_241971.2:n.268+739C>A (DSP-AS1) | ||
| NM_001008844.2:c.117G>T (DSP) | NP_001008844.1:p.Arg39Ser | |
| NM_001319034.1:c.117G>T (DSP) | NP_001305963.1:p.Arg39Ser | |
| NM_004415.3:c.117G>T (DSP) | NP_004406.2:p.Arg39Ser | |
| XR_241971.3:n.269+739C>A (DSP-AS1) | ||
| NM_004415.4:c.117G>T (DSP) MANE Select | NP_004406.2:p.Arg39Ser | |
| NM_001008844.3:c.117G>T (DSP) | NP_001008844.1:p.Arg39Ser | |
| NM_001319034.2:c.117G>T (DSP) | NP_001305963.1:p.Arg39Ser |