Linked Data
ClinVar Variation Id:
2662942
ClinVar RCV Id:
RCV003441607
dbSNP Id:
rs780426627
ExAC:
11:68701355 A / G
gnomAD v4:
11-68933887-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933887A>G , CM000673.2:g.68933887A>G | GRCh38 |
| NC_000011.9:g.68701355A>G , CM000673.1:g.68701355A>G | GRCh37 |
| NC_000011.8:g.68457931A>G | NCBI36 |
| NG_007976.1:g.35037A>G , LRG_250:g.35037A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1511A>G MANE Select | ENSP00000255078.4:p.Glu504Gly | |
| ENST00000674955.1:c.*228A>G | ENSP00000502463.1:n.*228A>G | |
| ENST00000675118.1:c.999A>G | ||
| ENST00000675205.1:n.183+406A>G | ||
| ENST00000675615.1:c.1511A>G | ENSP00000502413.1:p.Glu504Gly | |
| ENST00000675648.1:n.886A>G | ||
| ENST00000675997.1:n.113-577A>G | ||
| ENST00000676173.1:n.2256A>G | ||
| ENST00000676228.1:c.*834A>G | ENSP00000502375.1:n.*834A>G | |
| ENST00000255078.7:c.1511A>G | ENSP00000255078.3:p.Glu504Gly | |
| ENST00000537458.5:n.628A>G | ||
| ENST00000539064.5:n.1270A>G | ||
| ENST00000541229.5:n.206A>G | ||
| ENST00000543739.5:n.628A>G | ||
| NM_002180.2:c.1511A>G , LRG_250t1:c.1511A>G | NP_002171.2:p.Glu504Gly | |
| XM_005273974.2:c.500A>G | XP_005274031.1:p.Glu167Gly | |
| XM_005273975.2:c.383A>G | XP_005274032.1:p.Glu128Gly | |
| XM_011544994.1:c.278A>G | XP_011543296.1:p.Glu93Gly | |
| XR_949903.1:n.1613A>G | ||
| XM_005273975.3:c.383A>G | XP_005274032.1:p.Glu128Gly | |
| XM_017017669.2:c.500A>G | XP_016873158.1:p.Glu167Gly | |
| XM_017017670.2:c.500A>G | XP_016873159.1:p.Glu167Gly | |
| XM_017017671.2:c.1511A>G | XP_016873160.1:p.Glu504Gly | |
| XR_949903.3:n.1609A>G | ||
| NM_002180.3:c.1511A>G MANE Select | NP_002171.2:p.Glu504Gly |