Linked Data
ClinVar Variation Id:
2923501
ClinVar RCV Id:
RCV003780619
dbSNP Id:
rs1244801084
gnomAD v2:
11-68701362-A-G
gnomAD v3:
11-68933894-A-G
gnomAD v4:
11-68933894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933894A>G , CM000673.2:g.68933894A>G | GRCh38 |
| NC_000011.9:g.68701362A>G , CM000673.1:g.68701362A>G | GRCh37 |
| NC_000011.8:g.68457938A>G | NCBI36 |
| NG_007976.1:g.35044A>G , LRG_250:g.35044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1518A>G MANE Select | ENSP00000255078.4:p.Glu506= | |
| ENST00000674955.1:c.*235A>G | ENSP00000502463.1:n.*235A>G | |
| ENST00000675118.1:c.1006A>G | ||
| ENST00000675205.1:n.183+413A>G | ||
| ENST00000675615.1:c.1518A>G | ENSP00000502413.1:p.Glu506= | |
| ENST00000675648.1:n.893A>G | ||
| ENST00000675997.1:n.113-570A>G | ||
| ENST00000676173.1:n.2263A>G | ||
| ENST00000676228.1:c.*841A>G | ENSP00000502375.1:n.*841A>G | |
| ENST00000255078.7:c.1518A>G | ENSP00000255078.3:p.Glu506= | |
| ENST00000537458.5:n.635A>G | ||
| ENST00000539064.5:n.1277A>G | ||
| ENST00000541229.5:n.213A>G | ||
| ENST00000543739.5:n.635A>G | ||
| NM_002180.2:c.1518A>G , LRG_250t1:c.1518A>G | NP_002171.2:p.Glu506= | |
| XM_005273974.2:c.507A>G | XP_005274031.1:p.Glu169= | |
| XM_005273975.2:c.390A>G | XP_005274032.1:p.Glu130= | |
| XM_011544994.1:c.285A>G | XP_011543296.1:p.Glu95= | |
| XR_949903.1:n.1620A>G | ||
| XM_005273975.3:c.390A>G | XP_005274032.1:p.Glu130= | |
| XM_017017669.2:c.507A>G | XP_016873158.1:p.Glu169= | |
| XM_017017670.2:c.507A>G | XP_016873159.1:p.Glu169= | |
| XM_017017671.2:c.1518A>G | XP_016873160.1:p.Glu506= | |
| XR_949903.3:n.1616A>G | ||
| NM_002180.3:c.1518A>G MANE Select | NP_002171.2:p.Glu506= |