Linked Data
ClinVar Variation Id:
377806
dbSNP Id:
rs368802003
ExAC:
6:7542160 C / T
gnomAD v2:
6-7542160-C-T
gnomAD v3:
6-7541927-C-T
gnomAD v4:
6-7541927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7541927C>T , CM000668.2:g.7541927C>T | GRCh38 |
| NC_000006.11:g.7542160C>T , CM000668.1:g.7542160C>T | GRCh37 |
| NC_000006.10:g.7487159C>T | NCBI36 |
| NG_008803.1:g.5291C>T , LRG_423:g.5291C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.12C>T (DSP) | ENSP00000508162.2:p.Asn4= | |
| ENST00000710359.1:c.12C>T (DSP) | ENSP00000518230.1:p.Asn4= | |
| ENST00000379802.8:c.12C>T (DSP) MANE Select | ENSP00000369129.3:p.Asn4= | |
| ENST00000379802.7:c.12C>T (DSP) | ENSP00000369129.3:p.Asn4= | |
| ENST00000418664.2:c.12C>T (DSP) | ENSP00000396591.2:p.Asn4= | |
| NM_001008844.1:c.12C>T (DSP) | NP_001008844.1:p.Asn4= | |
| NM_004415.2:c.12C>T , LRG_423t1:c.12C>T (DSP) | NP_004406.2:p.Asn4= | |
| XM_011514323.1:c.12C>T (DSP) | XP_011512625.1:p.Asn4= | |
| XR_241971.2:n.268+844G>A (DSP-AS1) | ||
| NM_001008844.2:c.12C>T (DSP) | NP_001008844.1:p.Asn4= | |
| NM_001319034.1:c.12C>T (DSP) | NP_001305963.1:p.Asn4= | |
| NM_004415.3:c.12C>T (DSP) | NP_004406.2:p.Asn4= | |
| XR_241971.3:n.269+844G>A (DSP-AS1) | ||
| NM_004415.4:c.12C>T (DSP) MANE Select | NP_004406.2:p.Asn4= | |
| NM_001008844.3:c.12C>T (DSP) | NP_001008844.1:p.Asn4= | |
| NM_001319034.2:c.12C>T (DSP) | NP_001305963.1:p.Asn4= |