Linked Data
ClinVar Variation Id:
376739
ClinVar RCV Id:
RCV000434509
dbSNP Id:
rs138551214
ExAC:
1:23235518 G / A
gnomAD v2:
1-23235518-G-A
gnomAD v3:
1-22909025-G-A
gnomAD v4:
1-22909025-G-A
PubMed:
PMID:18682749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22909025G>A , CM000663.2:g.22909025G>A | GRCh38 |
| NC_000001.10:g.23235518G>A , CM000663.1:g.23235518G>A | GRCh37 |
| NC_000001.9:g.23108105G>A | NCBI36 |
| NG_011804.2:g.203188G>A , LRG_780:g.203188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374630.8:c.2356G>A MANE Select | ENSP00000363761.3:p.Gly786Arg | |
| ENST00000374627.1:c.2341G>A | ENSP00000363758.1:p.Gly781Arg | |
| ENST00000374630.7:c.2356G>A | ENSP00000363761.3:p.Gly786Arg | |
| ENST00000374632.7:c.2359G>A | ENSP00000363763.3:p.Gly787Arg | |
| ENST00000400191.7:c.2356G>A | ENSP00000383053.3:p.Gly786Arg | |
| NM_001309192.1:c.2182G>A | NP_001296121.1:p.Gly728Arg | |
| NM_001309193.1:c.2356G>A | NP_001296122.1:p.Gly786Arg | |
| NM_004442.6:c.2359G>A | NP_004433.2:p.Gly787Arg | |
| NM_004442.7:c.2359G>A , LRG_780t1:c.2359G>A | NP_004433.2:p.Gly787Arg | |
| NM_017449.3:c.2356G>A | NP_059145.2:p.Gly786Arg | |
| NM_017449.4:c.2356G>A , LRG_780t2:c.2356G>A | NP_059145.2:p.Gly786Arg | |
| XM_006710441.2:c.2338G>A | XP_006710504.1:p.Gly780Arg | |
| XM_006710442.2:c.2266G>A | XP_006710505.1:p.Gly756Arg | |
| XM_011540976.1:c.1033G>A | XP_011539278.1:p.Gly345Arg | |
| XM_006710441.4:c.2338G>A | XP_006710504.1:p.Gly780Arg | |
| XM_006710442.4:c.2266G>A | XP_006710505.1:p.Gly756Arg | |
| XM_024453895.1:c.1033G>A | XP_024309663.1:p.Gly345Arg | |
| NM_001309192.2:c.2182G>A | NP_001296121.1:p.Gly728Arg | |
| NM_001309193.2:c.2356G>A | NP_001296122.1:p.Gly786Arg | |
| NM_017449.5:c.2356G>A MANE Select | NP_059145.2:p.Gly786Arg |