Linked Data
ClinVar Variation Id:
380141
dbSNP Id:
rs11568513
ExAC:
5:131728298 G / A
gnomAD v2:
5-131728298-G-A
gnomAD v3:
5-132392606-G-A
gnomAD v4:
5-132392606-G-A
COSMIC:
COSM1433033
MyVariant Identifiers:
chr5:g.131728298G>A (hg19)
chr5:g.131728298_131728299delinsAT (hg19)
chr5:g.132392606G>A (hg38)
chr5:g.132392606_132392607delinsAT (hg38)
PubMed:
PMID:16931768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392606G>A , CM000667.2:g.132392606G>A | GRCh38 |
| NC_000005.9:g.131728298G>A , CM000667.1:g.131728298G>A | GRCh37 |
| NC_000005.8:g.131756197G>A | NCBI36 |
| NG_008982.1:g.27898G>A | |
| NG_008982.2:g.27903G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1282G>A | ENSP00000388838.2:p.Val428Ile | |
| ENST00000435065.7:c.1513G>A | ENSP00000402760.2:p.Val505Ile | |
| ENST00000448810.6:c.*293G>A | ENSP00000401860.2:n.*293G>A | |
| ENST00000685543.1:n.1582G>A | ||
| ENST00000686757.1:c.*605G>A | ENSP00000510721.1:n.*605G>A | |
| ENST00000687740.1:n.4126G>A | ||
| ENST00000688151.1:n.2751G>A | ||
| ENST00000689271.1:c.1288G>A | ENSP00000510797.1:p.Val430Ile | |
| ENST00000690900.1:c.*605G>A | ENSP00000510703.1:n.*605G>A | |
| ENST00000692212.1:n.4581G>A | ||
| ENST00000692355.1:c.694G>A | ||
| ENST00000692413.1:c.1423G>A | ENSP00000509374.1:p.Val475Ile | |
| ENST00000692825.1:c.1509G>A | ENSP00000509447.1:n.1509G>A | |
| ENST00000693308.1:c.1489G>A | ENSP00000509770.1:p.Val497Ile | |
| ENST00000693763.1:n.2601G>A | ||
| ENST00000245407.8:c.1441G>A MANE Select | ENSP00000245407.3:p.Val481Ile | |
| ENST00000245407.7:c.1441G>A | ENSP00000245407.3:p.Val481Ile | |
| ENST00000435065.6:c.1513G>A | ENSP00000402760.2:p.Val505Ile | |
| ENST00000447841.5:c.285G>A | ||
| ENST00000448810.5:c.703G>A | ||
| ENST00000461013.5:n.8863G>A | ||
| ENST00000475308.1:n.2119G>A | ||
| ENST00000479605.5:n.544G>A | ||
| NM_001308122.1:c.1513G>A | NP_001295051.1:p.Val505Ile | |
| NM_003060.3:c.1441G>A | NP_003051.1:p.Val481Ile | |
| XM_011543590.1:c.823G>A | XP_011541892.1:p.Val275Ile | |
| XR_948290.1:n.1567G>A | ||
| XM_011543590.2:c.823G>A | XP_011541892.1:p.Val275Ile | |
| XM_017009778.2:c.913G>A | XP_016865267.1:p.Val305Ile | |
| XR_001742215.1:n.1696G>A | ||
| XR_001742216.1:n.1715G>A | ||
| XR_427718.2:n.1801G>A | ||
| XR_948290.2:n.1567G>A | ||
| XR_948291.2:n.1795G>A | ||
| NM_003060.4:c.1441G>A MANE Select | NP_003051.1:p.Val481Ile | |
| NM_001308122.2:c.1513G>A | NP_001295051.1:p.Val505Ile |