Linked Data
ClinVar Variation Id:
745658
ClinVar RCV Id:
RCV000922221
dbSNP Id:
rs115758301
ExAC:
9:114332412 G / A
gnomAD v2:
9-114332412-G-A
gnomAD v3:
9-111570132-G-A
gnomAD v4:
9-111570132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.111570132G>A , CM000671.2:g.111570132G>A | GRCh38 |
| NC_000009.11:g.114332412G>A , CM000671.1:g.114332412G>A | GRCh37 |
| NC_000009.10:g.113372233G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407693.7:c.838C>T (PTGR1) MANE Select | ENSP00000385763.2:p.Arg280Cys | |
| ENST00000466771.6:c.838C>T (PTGR1) | ENSP00000435665.2:p.Arg280Cys | |
| ENST00000538962.7:c.838C>T (PTGR1) | ENSP00000440281.1:p.Arg280Cys | |
| ENST00000309195.9:c.838C>T (PTGR1) | ENSP00000311572.5:p.Arg280Cys | |
| ENST00000358151.8:c.722-6233G>A (ZNF483) | ENSP00000350871.4:n.722-6233G>A | |
| ENST00000374324.5:c.*735C>T (PTGR1) | ENSP00000363444.1:n.*735C>T | |
| ENST00000407693.6:c.838C>T (PTGR1) | ENSP00000385763.2:p.Arg280Cys | |
| ENST00000466771.5:c.292C>T (PTGR1) | ENSP00000435665.1:p.Arg98Cys | |
| ENST00000538962.5:c.838C>T (PTGR1) | ENSP00000440281.1:p.Arg280Cys | |
| NM_001007169.3:c.722-6233G>A (ZNF483) | NP_001007170.1:n.722-6233G>A | |
| NM_001146108.1:c.838C>T (PTGR1) | NP_001139580.1:p.Arg280Cys | |
| NM_001146109.1:c.838C>T (PTGR1) | NP_001139581.1:p.Arg280Cys | |
| NM_012212.3:c.838C>T (PTGR1) | NP_036344.2:p.Arg280Cys | |
| XM_011518394.1:c.760+4602C>T (PTGR1) | XP_011516696.1:n.760+4602C>T | |
| XM_011518395.1:c.469C>T (PTGR1) | XP_011516697.1:p.Arg157Cys | |
| XR_929738.1:n.1101C>T (PTGR1) | ||
| NM_001007169.4:c.722-6233G>A (ZNF483) | NP_001007170.1:n.722-6233G>A | |
| XM_011518394.2:c.760+4602C>T (PTGR1) | XP_011516696.1:n.760+4602C>T | |
| XM_011518395.3:c.469C>T (PTGR1) | XP_011516697.1:p.Arg157Cys | |
| XM_017014485.2:c.760+4602C>T (PTGR1) | XP_016869974.1:n.760+4602C>T | |
| XR_001746250.2:n.939C>T (PTGR1) | ||
| XR_929738.2:n.1101C>T (PTGR1) | ||
| NM_001146108.2:c.838C>T (PTGR1) MANE Select | NP_001139580.1:p.Arg280Cys | |
| NM_001007169.5:c.722-6233G>A (ZNF483) | NP_001007170.1:n.722-6233G>A | |
| NM_001007169.6:c.722-6233G>A (ZNF483) | NP_001007170.1:n.722-6233G>A | |
| NM_001146109.2:c.838C>T (PTGR1) | NP_001139581.1:p.Arg280Cys |