Linked Data
ClinVar Variation Id:
2113962
ClinVar RCV Id:
RCV003029806
dbSNP Id:
rs778585727
ExAC:
1:186135949 A / G
gnomAD v4:
1-186166817-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166817A>G , CM000663.2:g.186166817A>G | GRCh38 |
| NC_000001.10:g.186135949A>G , CM000663.1:g.186135949A>G | GRCh37 |
| NC_000001.9:g.184402572A>G | NCBI36 |
| NG_011841.1:g.437267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15449A>G MANE Select | ENSP00000271588.4:p.Glu5150Gly | |
| ENST00000271588.8:c.15449A>G | ENSP00000271588.4:p.Glu5150Gly | |
| ENST00000475585.1:n.163-4520A>G | ||
| NM_031935.2:c.15449A>G | NP_114141.2:p.Glu5150Gly | |
| XM_011510037.1:c.15164A>G | XP_011508339.1:p.Glu5055Gly | |
| XM_011510038.1:c.15449A>G | XP_011508340.1:p.Glu5150Gly | |
| XM_011510038.3:c.15449A>G | XP_011508340.1:p.Glu5150Gly | |
| XM_017002437.1:c.13472A>G | XP_016857926.1:p.Glu4491Gly | |
| NM_031935.3:c.15449A>G MANE Select | NP_114141.2:p.Glu5150Gly |