Linked Data
dbSNP Id:
rs1489979232
gnomAD v2:
13-113772744-G-A
gnomAD v3:
13-113118430-G-A
gnomAD v4:
13-113118430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118430G>A , CM000675.2:g.113118430G>A | GRCh38 |
| NC_000013.10:g.113772744G>A , CM000675.1:g.113772744G>A | GRCh37 |
| NC_000013.9:g.112820745G>A | NCBI36 |
| NG_009258.1:g.632G>A , LRG_548:g.632G>A | |
| NG_009262.1:g.17640G>A , LRG_554:g.17640G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.757G>A MANE Select | ENSP00000329546.4:p.Glu253Lys | |
| ENST00000346342.7:c.757G>A | ENSP00000329546.3:p.Glu253Lys | |
| ENST00000375581.3:c.823G>A | ENSP00000364731.3:p.Glu275Lys | |
| ENST00000541084.5:c.571G>A | ENSP00000442051.2:p.Glu191Lys | |
| NM_000131.4:c.823G>A , LRG_554t1:c.823G>A | NP_000122.1:p.Glu275Lys | |
| NM_001267554.1:c.571G>A | NP_001254483.1:p.Glu191Lys | |
| NM_019616.3:c.757G>A , LRG_554t2:c.757G>A | NP_062562.1:p.Glu253Lys | |
| NR_051961.1:n.844G>A | ||
| XM_006719963.2:c.616G>A | XP_006720026.1:p.Glu206Lys | |
| XM_011537474.1:c.865G>A | XP_011535776.1:p.Glu289Lys | |
| XM_011537475.1:c.679G>A | XP_011535777.1:p.Glu227Lys | |
| XM_011537476.1:c.517G>A | XP_011535778.1:p.Glu173Lys | |
| XM_011537477.1:c.826G>A | XP_011535779.1:p.Glu276Lys | |
| XM_006719963.3:c.661G>A | XP_006720026.2:p.Glu221Lys | |
| XM_011537474.2:c.910G>A | XP_011535776.2:p.Glu304Lys | |
| XM_011537475.2:c.724G>A | XP_011535777.2:p.Glu242Lys | |
| XM_011537476.2:c.517G>A | XP_011535778.1:p.Glu173Lys | |
| NM_019616.4:c.757G>A MANE Select | NP_062562.1:p.Glu253Lys | |
| NR_051961.2:n.841G>A | ||
| NM_001267554.2:c.571G>A | NP_001254483.1:p.Glu191Lys |