Linked Data
ClinVar Variation Id:
216727
ClinVar RCV Id:
RCV000197380
RCV000571944
RCV000678743
RCV000679750
RCV000662413
RCV002503785
RCV003153474
RCV003462339
dbSNP Id:
rs79014735
ExAC:
10:43597858 G / A
gnomAD v2:
10-43597858-G-A
gnomAD v3:
10-43102410-G-A
gnomAD v4:
10-43102410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43102410G>A , CM000672.2:g.43102410G>A | GRCh38 |
| NC_000010.10:g.43597858G>A , CM000672.1:g.43597858G>A | GRCh37 |
| NC_000010.9:g.42917864G>A | NCBI36 |
| NG_007489.1:g.30342G>A , LRG_518:g.30342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.406G>A | ENSP00000480088.2:p.Glu136Lys | |
| ENST00000683278.1:c.327G>A | ||
| ENST00000684216.1:c.308G>A | ||
| ENST00000340058.6:c.406G>A | ENSP00000344798.4:p.Glu136Lys | |
| ENST00000355710.8:c.406G>A MANE Select | ENSP00000347942.3:p.Glu136Lys | |
| ENST00000638465.1:c.348G>A | ||
| ENST00000640619.1:c.240-61G>A | ||
| ENST00000671844.1:c.406G>A | ENSP00000500541.1:p.Glu136Lys | |
| ENST00000672389.1:c.74-8797G>A | ENSP00000500252.1:n.74-8797G>A | |
| ENST00000340058.5:c.406G>A | ENSP00000344798.4:p.Glu136Lys | |
| ENST00000355710.7:c.406G>A | ENSP00000347942.3:p.Glu136Lys | |
| ENST00000498820.5:c.74-9689G>A | ENSP00000419080.1:n.74-9689G>A | |
| ENST00000615310.4:c.406G>A | ENSP00000480088.1:p.Glu136Lys | |
| NM_020630.4:c.406G>A , LRG_518t2:c.406G>A | NP_065681.1:p.Glu136Lys | |
| NM_020975.4:c.406G>A , LRG_518t1:c.406G>A | NP_066124.1:p.Glu136Lys | |
| XM_011540027.1:c.406G>A | XP_011538329.1:p.Glu136Lys | |
| NM_020630.5:c.406G>A | NP_065681.1:p.Glu136Lys | |
| NM_020975.5:c.406G>A | NP_066124.1:p.Glu136Lys | |
| NM_020975.6:c.406G>A MANE Select | NP_066124.1:p.Glu136Lys | |
| NM_020630.6:c.406G>A | NP_065681.1:p.Glu136Lys |