Linked Data
ClinVar Variation Id:
216491
dbSNP Id:
rs373960465
ExAC:
4:15565009 G / A
gnomAD v2:
4-15565009-G-A
gnomAD v3:
4-15563386-G-A
gnomAD v4:
4-15563386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15563386G>A , CM000666.2:g.15563386G>A | GRCh38 |
| NC_000004.11:g.15565009G>A , CM000666.1:g.15565009G>A | GRCh37 |
| NC_000004.10:g.15174107G>A | NCBI36 |
| NG_013035.1:g.98521G>A , LRG_697:g.98521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3061G>A | ENSP00000374303.8:p.Glu1021Lys | |
| ENST00000424120.6:c.3046G>A MANE Select | ENSP00000403465.1:p.Glu1016Lys | |
| ENST00000503292.6:c.3046G>A | ENSP00000421809.1:p.Glu1016Lys | |
| ENST00000506643.5:c.2899G>A | ENSP00000422931.2:p.Glu967Lys | |
| ENST00000634028.2:c.2899G>A | ENSP00000488669.2:p.Glu967Lys | |
| ENST00000650860.2:c.*52G>A | ENSP00000498775.1:n.*52G>A | |
| ENST00000674945.1:c.2899G>A | ENSP00000502333.1:p.Glu967Lys | |
| ENST00000675619.1:n.3857G>A | ||
| ENST00000675768.1:n.266G>A | ||
| ENST00000676337.1:c.*52G>A | ENSP00000501728.1:n.*52G>A | |
| ENST00000680586.1:n.3705G>A | ||
| ENST00000389652.9:c.2523G>A | ||
| ENST00000424120.5:c.3046G>A | ENSP00000403465.1:p.Glu1016Lys | |
| ENST00000503292.5:c.3046G>A | ENSP00000421809.1:p.Glu1016Lys | |
| ENST00000506643.4:c.1374G>A | ||
| ENST00000634028.1:c.3029G>A | ENSP00000488669.1:n.3029G>A | |
| NM_001080522.2:c.3046G>A , LRG_697t1:c.3046G>A | NP_001073991.2:p.Glu1016Lys | |
| XM_005248177.1:c.3046G>A | XP_005248234.1:p.Glu1016Lys | |
| XM_011513869.1:c.3046G>A | XP_011512171.1:p.Glu1016Lys | |
| XM_011513870.1:c.3046G>A | XP_011512172.1:p.Glu1016Lys | |
| XM_011513871.1:c.2899G>A | XP_011512173.1:p.Glu967Lys | |
| XM_011513872.1:c.*32G>A | XP_011512174.1:n.*32G>A | |
| XM_011513872.3:c.*32G>A | XP_011512174.1:n.*32G>A | |
| XM_017008482.1:c.2899G>A | XP_016863971.1:p.Glu967Lys | |
| XR_001741296.1:n.3291G>A | ||
| NM_001378615.1:c.3046G>A MANE Select | NP_001365544.1:p.Glu1016Lys | |
| NM_001378617.1:c.2899G>A | NP_001365546.1:p.Glu967Lys |