Linked Data
ClinVar Variation Id:
2573368
ClinVar RCV Id:
RCV003317704
dbSNP Id:
rs531916165
ExAC:
13:113772729 G / A
gnomAD v2:
13-113772729-G-A
gnomAD v3:
13-113118415-G-A
gnomAD v4:
13-113118415-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118415G>A , CM000675.2:g.113118415G>A | GRCh38 |
| NC_000013.10:g.113772729G>A , CM000675.1:g.113772729G>A | GRCh37 |
| NC_000013.9:g.112820730G>A | NCBI36 |
| NG_009258.1:g.617G>A , LRG_548:g.617G>A | |
| NG_009262.1:g.17625G>A , LRG_554:g.17625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.742G>A MANE Select | ENSP00000329546.4:p.Glu248Lys | |
| ENST00000346342.7:c.742G>A | ENSP00000329546.3:p.Glu248Lys | |
| ENST00000375581.3:c.808G>A | ENSP00000364731.3:p.Glu270Lys | |
| ENST00000541084.5:c.556G>A | ENSP00000442051.2:p.Glu186Lys | |
| NM_000131.4:c.808G>A , LRG_554t1:c.808G>A | NP_000122.1:p.Glu270Lys | |
| NM_001267554.1:c.556G>A | NP_001254483.1:p.Glu186Lys | |
| NM_019616.3:c.742G>A , LRG_554t2:c.742G>A | NP_062562.1:p.Glu248Lys | |
| NR_051961.1:n.829G>A | ||
| XM_006719963.2:c.601G>A | XP_006720026.1:p.Glu201Lys | |
| XM_011537474.1:c.850G>A | XP_011535776.1:p.Glu284Lys | |
| XM_011537475.1:c.664G>A | XP_011535777.1:p.Glu222Lys | |
| XM_011537476.1:c.502G>A | XP_011535778.1:p.Glu168Lys | |
| XM_011537477.1:c.811G>A | XP_011535779.1:p.Glu271Lys | |
| XM_006719963.3:c.646G>A | XP_006720026.2:p.Glu216Lys | |
| XM_011537474.2:c.895G>A | XP_011535776.2:p.Glu299Lys | |
| XM_011537475.2:c.709G>A | XP_011535777.2:p.Glu237Lys | |
| XM_011537476.2:c.502G>A | XP_011535778.1:p.Glu168Lys | |
| NM_019616.4:c.742G>A MANE Select | NP_062562.1:p.Glu248Lys | |
| NR_051961.2:n.826G>A | ||
| NM_001267554.2:c.556G>A | NP_001254483.1:p.Glu186Lys |