Linked Data
ClinVar Variation Id:
7354
ClinVar RCV Id:
RCV000007779
dbSNP Id:
rs104894295
ExAC:
11:121174170 G / A
gnomAD v2:
11-121174170-G-A
gnomAD v4:
11-121303461-G-A
PubMed:
PMID:12189593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121303461G>A , CM000673.2:g.121303461G>A | GRCh38 |
| NC_000011.9:g.121174170G>A , CM000673.1:g.121174170G>A | GRCh37 |
| NC_000011.8:g.120679380G>A | NCBI36 |
| NG_009446.1:g.15783G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264027.9:c.86G>A MANE Select | ENSP00000264027.4:p.Arg29Gln | |
| ENST00000264027.8:c.86G>A | ENSP00000264027.4:p.Arg29Gln | |
| ENST00000392789.2:c.86G>A | ENSP00000376539.2:p.Arg29Gln | |
| ENST00000524683.5:n.142G>A | ||
| ENST00000527762.5:c.86G>A | ENSP00000436290.1:p.Arg29Gln | |
| ENST00000531140.1:n.154G>A | ||
| ENST00000534230.5:c.86G>A | ENSP00000432550.1:p.Arg29Gln | |
| ENST00000534455.5:n.232G>A | ||
| NM_001024956.2:c.86G>A | NP_001020127.1:p.Arg29Gln | |
| NM_006918.4:c.86G>A | NP_008849.2:p.Arg29Gln | |
| NM_006918.5:c.86G>A MANE Select | NP_008849.2:p.Arg29Gln | |
| NM_001024956.3:c.86G>A | NP_001020127.1:p.Arg29Gln |