Linked Data
ClinVar Variation Id:
9112
dbSNP Id:
rs137852665
ExAC:
11:68701934 G / A
gnomAD v2:
11-68701934-G-A
gnomAD v3:
11-68934466-G-A
gnomAD v4:
11-68934466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934466G>A , CM000673.2:g.68934466G>A | GRCh38 |
| NC_000011.9:g.68701934G>A , CM000673.1:g.68701934G>A | GRCh37 |
| NC_000011.8:g.68458510G>A | NCBI36 |
| NG_007976.1:g.35616G>A , LRG_250:g.35616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1540G>A MANE Select | ENSP00000255078.4:p.Glu514Lys | |
| ENST00000674672.1:n.3G>A | ||
| ENST00000674955.1:c.*257G>A | ENSP00000502463.1:n.*257G>A | |
| ENST00000675118.1:c.1028G>A | ||
| ENST00000675205.1:n.186G>A | ||
| ENST00000675615.1:c.1540G>A | ENSP00000502413.1:p.Glu514Lys | |
| ENST00000675648.1:n.915G>A | ||
| ENST00000675964.1:n.3G>A | ||
| ENST00000675997.1:n.115G>A | ||
| ENST00000676173.1:n.2285G>A | ||
| ENST00000676182.1:c.3G>A | ||
| ENST00000676228.1:c.*863G>A | ENSP00000502375.1:n.*863G>A | |
| ENST00000255078.7:c.1540G>A | ENSP00000255078.3:p.Glu514Lys | |
| ENST00000539064.5:n.1299G>A | ||
| ENST00000541229.5:n.235G>A | ||
| ENST00000543739.5:n.657G>A | ||
| ENST00000545475.1:n.136G>A | ||
| NM_002180.2:c.1540G>A , LRG_250t1:c.1540G>A | NP_002171.2:p.Glu514Lys | |
| XM_005273974.2:c.529G>A | XP_005274031.1:p.Glu177Lys | |
| XM_005273975.2:c.412G>A | XP_005274032.1:p.Glu138Lys | |
| XM_011544994.1:c.307G>A | XP_011543296.1:p.Glu103Lys | |
| XR_949903.1:n.1642G>A | ||
| XM_005273975.3:c.412G>A | XP_005274032.1:p.Glu138Lys | |
| XM_017017669.2:c.529G>A | XP_016873158.1:p.Glu177Lys | |
| XM_017017670.2:c.529G>A | XP_016873159.1:p.Glu177Lys | |
| XM_017017671.2:c.1540G>A | XP_016873160.1:p.Glu514Lys | |
| XR_949903.3:n.1638G>A | ||
| NM_002180.3:c.1540G>A MANE Select | NP_002171.2:p.Glu514Lys |