Linked Data
ClinVar Variation Id:
372238
dbSNP Id:
rs200725073
ExAC:
5:110096971 G / A
gnomAD v2:
5-110096971-G-A
gnomAD v3:
5-110761271-G-A
gnomAD v4:
5-110761271-G-A
PubMed:
PMID:26168012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761271G>A , CM000667.2:g.110761271G>A | GRCh38 |
| NC_000005.9:g.110096971G>A , CM000667.1:g.110096971G>A | GRCh37 |
| NC_000005.8:g.110124870G>A | NCBI36 |
| NG_051334.1:g.28136G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.746G>A MANE Select | ENSP00000348211.3:p.Gly249Asp | |
| ENST00000355943.7:c.746G>A | ENSP00000348211.3:p.Gly249Asp | |
| ENST00000447245.6:c.679-176G>A | ENSP00000399717.2:n.679-176G>A | |
| ENST00000502462.6:n.1062G>A | ||
| ENST00000504098.1:c.308G>A | ENSP00000425708.1:p.Gly103Asp | |
| ENST00000509432.1:c.107G>A | ENSP00000426604.1:p.Gly36Asp | |
| ENST00000513706.2:n.2346G>A | ||
| ENST00000513807.5:c.260G>A | ENSP00000421134.1:p.Gly87Asp | |
| NM_001303249.1:c.679-176G>A | NP_001290178.1:n.679-176G>A | |
| NM_001303250.1:c.473G>A | NP_001290179.1:p.Gly158Asp | |
| NM_138773.2:c.746G>A | NP_620128.1:p.Gly249Asp | |
| NM_001303249.2:c.679-176G>A | NP_001290178.1:n.679-176G>A | |
| NM_001303250.2:c.473G>A | NP_001290179.1:p.Gly158Asp | |
| NM_138773.3:c.746G>A | NP_620128.1:p.Gly249Asp | |
| NR_138151.1:n.1020G>A | ||
| NM_138773.4:c.746G>A MANE Select | NP_620128.1:p.Gly249Asp | |
| NM_001303249.3:c.679-176G>A | NP_001290178.1:n.679-176G>A | |
| NM_001303250.3:c.473G>A | NP_001290179.1:p.Gly158Asp | |
| NR_138151.2:n.985G>A |