Linked Data
ClinVar Variation Id:
16846
ClinVar RCV Id:
RCV000018340
RCV000029685
RCV000038118
RCV000234980
RCV000415109
RCV000619218
RCV000724208
RCV001083215
RCV001164369
RCV001164370
RCV001198383
dbSNP Id:
rs121912998
ExAC:
6:7542236 G / A
gnomAD v2:
6-7542236-G-A
gnomAD v3:
6-7542003-G-A
gnomAD v4:
6-7542003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7542003G>A , CM000668.2:g.7542003G>A | GRCh38 |
| NC_000006.11:g.7542236G>A , CM000668.1:g.7542236G>A | GRCh37 |
| NC_000006.10:g.7487235G>A | NCBI36 |
| NG_008803.1:g.5367G>A , LRG_423:g.5367G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683682.2:c.88G>A (DSP) | ENSP00000508162.2:p.Val30Met | |
| ENST00000710359.1:c.88G>A (DSP) | ENSP00000518230.1:p.Val30Met | |
| ENST00000379802.8:c.88G>A (DSP) MANE Select | ENSP00000369129.3:p.Val30Met | |
| ENST00000379802.7:c.88G>A (DSP) | ENSP00000369129.3:p.Val30Met | |
| ENST00000418664.2:c.88G>A (DSP) | ENSP00000396591.2:p.Val30Met | |
| NM_001008844.1:c.88G>A (DSP) | NP_001008844.1:p.Val30Met | |
| NM_004415.2:c.88G>A , LRG_423t1:c.88G>A (DSP) | NP_004406.2:p.Val30Met | |
| XM_011514323.1:c.88G>A (DSP) | XP_011512625.1:p.Val30Met | |
| XR_241971.2:n.268+768C>T (DSP-AS1) | ||
| NM_001008844.2:c.88G>A (DSP) | NP_001008844.1:p.Val30Met | |
| NM_001319034.1:c.88G>A (DSP) | NP_001305963.1:p.Val30Met | |
| NM_004415.3:c.88G>A (DSP) | NP_004406.2:p.Val30Met | |
| XR_241971.3:n.269+768C>T (DSP-AS1) | ||
| NM_004415.4:c.88G>A (DSP) MANE Select | NP_004406.2:p.Val30Met | |
| NM_001008844.3:c.88G>A (DSP) | NP_001008844.1:p.Val30Met | |
| NM_001319034.2:c.88G>A (DSP) | NP_001305963.1:p.Val30Met |