Linked Data
ClinVar Variation Id:
30230
ClinVar RCV Id:
RCV000023154
dbSNP Id:
rs387906826
gnomAD v3:
1-52397707-T-C
gnomAD v4:
1-52397707-T-C
PubMed:
PMID:21358633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52397707T>C , CM000663.2:g.52397707T>C | GRCh38 |
| NC_000001.10:g.52863379T>C , CM000663.1:g.52863379T>C | GRCh37 |
| NC_000001.9:g.52635967T>C | NCBI36 |
| NG_028251.1:g.11765A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371568.8:c.380A>G MANE Select | ENSP00000360623.3:p.Glu127Gly | |
| ENST00000371566.1:c.380A>G | ENSP00000360621.1:p.Glu127Gly | |
| ENST00000371568.7:c.380A>G | ENSP00000360623.3:p.Glu127Gly | |
| NM_001190818.1:c.380A>G | NP_001177747.1:p.Glu127Gly | |
| NM_001190819.1:c.380A>G | NP_001177748.1:p.Glu127Gly | |
| NM_004153.3:c.380A>G | NP_004144.2:p.Glu127Gly | |
| XM_011541527.3:c.-758A>G | XP_011539829.1:n.-758A>G | |
| XM_017001388.2:c.380A>G | XP_016856877.1:p.Glu127Gly | |
| XM_017001389.2:c.-421A>G | XP_016856878.1:n.-421A>G | |
| NM_004153.4:c.380A>G MANE Select | NP_004144.2:p.Glu127Gly | |
| NM_001190818.2:c.380A>G | NP_001177747.1:p.Glu127Gly | |
| NM_001190819.2:c.380A>G | NP_001177748.1:p.Glu127Gly |