Linked Data
ClinVar Variation Id:
281602
dbSNP Id:
rs200956405
ExAC:
4:148591865 T / A
gnomAD v2:
4-148591865-T-A
gnomAD v3:
4-147670714-T-A
gnomAD v4:
4-147670714-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.147670714T>A , CM000666.2:g.147670714T>A | GRCh38 |
| NC_000004.11:g.148591865T>A , CM000666.1:g.148591865T>A | GRCh37 |
| NC_000004.10:g.148811315T>A | NCBI36 |
| NG_053105.1:g.18517A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322396.7:c.773A>T (PRMT9) MANE Select | ENSP00000314396.6:p.Asp258Val | |
| ENST00000322396.6:c.773A>T (PRMT9) | ENSP00000314396.6:p.Asp258Val | |
| ENST00000508208.5:c.780-1153T>A (TMEM184C) | ENSP00000425940.1:n.780-1153T>A | |
| ENST00000514886.1:c.*423A>T (PRMT9) | ENSP00000426732.1:n.*423A>T | |
| NM_001304458.1:c.434A>T (PRMT9) | NP_001291387.1:p.Asp145Val | |
| NM_138364.3:c.773A>T (PRMT9) | NP_612373.2:p.Asp258Val | |
| XM_005263338.1:c.536A>T (PRMT9) | XP_005263395.1:p.Asp179Val | |
| XM_005263340.2:c.-69-2069A>T (PRMT9) | XP_005263397.1:n.-69-2069A>T | |
| NM_001350141.1:c.-671-2069A>T (PRMT9) | NP_001337070.1:n.-671-2069A>T | |
| NM_001350142.1:c.434A>T (PRMT9) | NP_001337071.1:p.Asp145Val | |
| NM_001350143.1:c.-137-6A>T (PRMT9) | NP_001337072.1:n.-137-6A>T | |
| NM_001350144.1:c.-476-2069A>T (PRMT9) | NP_001337073.1:n.-476-2069A>T | |
| XM_017008823.2:c.-137-6A>T (PRMT9) | XP_016864312.1:n.-137-6A>T | |
| XM_017008824.2:c.-69-2069A>T (PRMT9) | XP_016864313.1:n.-69-2069A>T | |
| XM_017008825.1:c.-137-6A>T (PRMT9) | XP_016864314.1:n.-137-6A>T | |
| XM_017008826.1:c.-69-2069A>T (PRMT9) | XP_016864315.1:n.-69-2069A>T | |
| NM_138364.4:c.773A>T (PRMT9) MANE Select | NP_612373.2:p.Asp258Val | |
| NM_001304458.2:c.434A>T (PRMT9) | NP_001291387.1:p.Asp145Val | |
| NM_001350141.2:c.-671-2069A>T (PRMT9) | NP_001337070.1:n.-671-2069A>T | |
| NM_001350142.2:c.434A>T (PRMT9) | NP_001337071.1:p.Asp145Val | |
| NM_001350143.2:c.-137-6A>T (PRMT9) | NP_001337072.1:n.-137-6A>T | |
| NM_001350144.2:c.-476-2069A>T (PRMT9) | NP_001337073.1:n.-476-2069A>T |