Linked Data
ClinVar Variation Id:
2867117
ClinVar RCV Id:
RCV003700560
dbSNP Id:
rs753680881
ExAC:
1:186135940 A / G
gnomAD v2:
1-186135940-A-G
gnomAD v4:
1-186166808-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166808A>G , CM000663.2:g.186166808A>G | GRCh38 |
| NC_000001.10:g.186135940A>G , CM000663.1:g.186135940A>G | GRCh37 |
| NC_000001.9:g.184402563A>G | NCBI36 |
| NG_011841.1:g.437258A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15440A>G MANE Select | ENSP00000271588.4:p.Asp5147Gly | |
| ENST00000271588.8:c.15440A>G | ENSP00000271588.4:p.Asp5147Gly | |
| ENST00000475585.1:n.163-4529A>G | ||
| NM_031935.2:c.15440A>G | NP_114141.2:p.Asp5147Gly | |
| XM_011510037.1:c.15155A>G | XP_011508339.1:p.Asp5052Gly | |
| XM_011510038.1:c.15440A>G | XP_011508340.1:p.Asp5147Gly | |
| XM_011510038.3:c.15440A>G | XP_011508340.1:p.Asp5147Gly | |
| XM_017002437.1:c.13463A>G | XP_016857926.1:p.Asp4488Gly | |
| NM_031935.3:c.15440A>G MANE Select | NP_114141.2:p.Asp5147Gly |