Linked Data
dbSNP Id:
rs141678243
ExAC:
13:113768253 G / A
gnomAD v2:
13-113768253-G-A
gnomAD v3:
13-113113939-G-A
gnomAD v4:
13-113113939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113113939G>A , CM000675.2:g.113113939G>A | GRCh38 |
| NC_000013.10:g.113768253G>A , CM000675.1:g.113768253G>A | GRCh37 |
| NC_000013.9:g.112816254G>A | NCBI36 |
| NG_009262.1:g.13149G>A , LRG_554:g.13149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.343G>A MANE Select | ENSP00000329546.4:p.Glu115Lys | |
| ENST00000346342.7:c.343G>A | ENSP00000329546.3:p.Glu115Lys | |
| ENST00000375581.3:c.409G>A | ENSP00000364731.3:p.Glu137Lys | |
| ENST00000444337.1:c.*151G>A | ENSP00000387669.1:n.*151G>A | |
| ENST00000473085.1:n.290G>A | ||
| ENST00000479674.1:n.676G>A | ||
| ENST00000541084.5:c.157G>A | ENSP00000442051.2:p.Glu53Lys | |
| NM_000131.4:c.409G>A , LRG_554t1:c.409G>A | NP_000122.1:p.Glu137Lys | |
| NM_001267554.1:c.157G>A | NP_001254483.1:p.Glu53Lys | |
| NM_019616.3:c.343G>A , LRG_554t2:c.343G>A | NP_062562.1:p.Glu115Lys | |
| NR_051961.1:n.430G>A | ||
| XM_006719963.2:c.343G>A | XP_006720026.1:p.Glu115Lys | |
| XM_011537474.1:c.343G>A | XP_011535776.1:p.Glu115Lys | |
| XM_011537475.1:c.157G>A | XP_011535777.1:p.Glu53Lys | |
| XM_011537477.1:c.304G>A | XP_011535779.1:p.Glu102Lys | |
| XM_006719963.3:c.388G>A | XP_006720026.2:p.Glu130Lys | |
| XM_011537474.2:c.388G>A | XP_011535776.2:p.Glu130Lys | |
| XM_011537475.2:c.202G>A | XP_011535777.2:p.Glu68Lys | |
| NM_019616.4:c.343G>A MANE Select | NP_062562.1:p.Glu115Lys | |
| NR_051961.2:n.427G>A | ||
| NM_001267554.2:c.157G>A | NP_001254483.1:p.Glu53Lys |