Linked Data
ClinVar Variation Id:
430645
ClinVar RCV Id:
RCV000495365
dbSNP Id:
rs1131692175
gnomAD v4:
11-86268499-A-G
COSMIC:
COSM3720451
PubMed:
PMID:27868325
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86268499A>G , CM000673.2:g.86268499A>G | GRCh38 |
| NC_000011.9:g.85979541A>G , CM000673.1:g.85979541A>G | GRCh37 |
| NC_000011.8:g.85657189A>G | NCBI36 |
| NG_029595.1:g.28736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707108.1:c.799A>G | ENSP00000516737.1:p.Arg267Gly | |
| ENST00000263360.11:c.904A>G MANE Select | ENSP00000263360.6:p.Arg302Gly | |
| ENST00000672825.1:c.904A>G | ENSP00000500834.1:p.Arg302Gly | |
| ENST00000673233.2:c.1084A>G | ENSP00000500914.2:p.Arg362Gly | |
| ENST00000263360.10:c.904A>G | ENSP00000263360.6:p.Arg302Gly | |
| ENST00000327320.8:c.904A>G | ENSP00000315587.4:p.Arg302Gly | |
| ENST00000351625.10:c.904A>G | ENSP00000338186.5:p.Arg302Gly | |
| ENST00000524673.2:n.605A>G | ||
| ENST00000525244.5:n.866A>G | ||
| ENST00000528180.5:c.726+4236A>G | ENSP00000431778.1:n.726+4236A>G | |
| ENST00000533228.1:n.497A>G | ||
| ENST00000534564.5:n.2316A>G | ||
| ENST00000534595.1:c.111-8481A>G | ||
| NM_001308007.1:c.904A>G | NP_001294936.1:p.Arg302Gly | |
| NM_003797.3:c.904A>G | NP_003788.2:p.Arg302Gly | |
| NM_003797.4:c.904A>G | NP_003788.2:p.Arg302Gly | |
| NM_152991.2:c.904A>G | NP_694536.1:p.Arg302Gly | |
| XM_005274373.1:c.726+4236A>G | XP_005274430.1:n.726+4236A>G | |
| XM_011545330.1:c.904A>G | XP_011543632.1:p.Arg302Gly | |
| XM_011545331.1:c.904A>G | XP_011543633.1:p.Arg302Gly | |
| XR_247215.2:n.1546+2283A>G | ||
| NM_001330334.1:c.726+4236A>G | NP_001317263.1:n.726+4236A>G | |
| XM_011545330.2:c.904A>G | XP_011543632.1:p.Arg302Gly | |
| XM_011545331.2:c.904A>G | XP_011543633.1:p.Arg302Gly | |
| XM_017018512.2:c.904A>G | XP_016874001.1:p.Arg302Gly | |
| XM_017018513.2:c.726+4236A>G | XP_016874002.1:n.726+4236A>G | |
| XR_001748022.2:n.1381A>G | ||
| XR_247215.4:n.1337+2283A>G | ||
| NM_003797.5:c.904A>G MANE Select | NP_003788.2:p.Arg302Gly | |
| NM_001308007.2:c.904A>G | NP_001294936.1:p.Arg302Gly | |
| NM_001330334.2:c.726+4236A>G | NP_001317263.1:n.726+4236A>G |