Linked Data
ClinVar Variation Id:
534320
dbSNP Id:
rs71559180
ExAC:
6:7542226 G / T
gnomAD v2:
6-7542226-G-T
gnomAD v3:
6-7541993-G-T
gnomAD v4:
6-7541993-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7541993G>T , CM000668.2:g.7541993G>T | GRCh38 |
| NC_000006.11:g.7542226G>T , CM000668.1:g.7542226G>T | GRCh37 |
| NC_000006.10:g.7487225G>T | NCBI36 |
| NG_008803.1:g.5357G>T , LRG_423:g.5357G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683682.2:c.78G>T (DSP) | ENSP00000508162.2:p.Leu26= | |
| ENST00000710359.1:c.78G>T (DSP) | ENSP00000518230.1:p.Leu26= | |
| ENST00000379802.8:c.78G>T (DSP) MANE Select | ENSP00000369129.3:p.Leu26= | |
| ENST00000379802.7:c.78G>T (DSP) | ENSP00000369129.3:p.Leu26= | |
| ENST00000418664.2:c.78G>T (DSP) | ENSP00000396591.2:p.Leu26= | |
| NM_001008844.1:c.78G>T (DSP) | NP_001008844.1:p.Leu26= | |
| NM_004415.2:c.78G>T , LRG_423t1:c.78G>T (DSP) | NP_004406.2:p.Leu26= | |
| XM_011514323.1:c.78G>T (DSP) | XP_011512625.1:p.Leu26= | |
| XR_241971.2:n.268+778C>A (DSP-AS1) | ||
| NM_001008844.2:c.78G>T (DSP) | NP_001008844.1:p.Leu26= | |
| NM_001319034.1:c.78G>T (DSP) | NP_001305963.1:p.Leu26= | |
| NM_004415.3:c.78G>T (DSP) | NP_004406.2:p.Leu26= | |
| XR_241971.3:n.269+778C>A (DSP-AS1) | ||
| NM_004415.4:c.78G>T (DSP) MANE Select | NP_004406.2:p.Leu26= | |
| NM_001008844.3:c.78G>T (DSP) | NP_001008844.1:p.Leu26= | |
| NM_001319034.2:c.78G>T (DSP) | NP_001305963.1:p.Leu26= |