Linked Data
ClinVar Variation Id:
426529
dbSNP Id:
rs143549909
ExAC:
8:134262721 G / T
gnomAD v2:
8-134262721-G-T
gnomAD v3:
8-133250478-G-T
gnomAD v4:
8-133250478-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133250478G>T , CM000670.2:g.133250478G>T | GRCh38 |
| NC_000008.10:g.134262721G>T , CM000670.1:g.134262721G>T | GRCh37 |
| NC_000008.9:g.134331903G>T | NCBI36 |
| NG_007943.1:g.51778C>A , LRG_258:g.51778C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.660C>A MANE Select | ENSP00000319977.8:p.Asn220Lys | |
| ENST00000537882.3:c.660C>A | ENSP00000437443.2:p.Asn220Lys | |
| ENST00000675172.1:c.256C>A | ENSP00000502297.1:n.256C>A | |
| ENST00000675273.1:n.58-1707C>A | ||
| ENST00000675860.1:n.425C>A | ||
| ENST00000676142.1:n.66C>A | ||
| ENST00000676444.1:n.691C>A | ||
| ENST00000323851.11:c.660C>A | ENSP00000319977.7:p.Asn220Lys | |
| ENST00000414097.6:c.660C>A | ENSP00000404854.2:p.Asn220Lys | |
| ENST00000517331.5:n.378C>A | ||
| ENST00000517599.5:c.*266C>A | ENSP00000429172.1:n.*266C>A | |
| ENST00000518066.5:c.37-8422C>A | ENSP00000431057.1:n.37-8422C>A | |
| ENST00000518176.5:c.49-3815C>A | ENSP00000429007.1:n.49-3815C>A | |
| ENST00000519278.5:n.1756C>A | ||
| ENST00000521664.1:n.410C>A | ||
| ENST00000522377.5:c.*140C>A | ENSP00000429380.1:n.*140C>A | |
| ENST00000522476.5:c.462C>A | ENSP00000427894.1:p.Asn154Lys | |
| ENST00000537882.2:c.417C>A | ENSP00000437443.1:p.Asn139Lys | |
| NM_001135242.1:c.660C>A | NP_001128714.1:p.Asn220Lys | |
| NM_001258432.1:c.462C>A | NP_001245361.1:p.Asn154Lys | |
| NM_001258433.1:c.417C>A | NP_001245362.1:p.Asn139Lys | |
| NM_006096.3:c.660C>A , LRG_258t1:c.660C>A | NP_006087.2:p.Asn220Lys | |
| XM_011516791.1:c.711C>A | XP_011515093.1:p.Asn237Lys | |
| XM_011516792.1:c.93C>A | XP_011515094.1:p.Asn31Lys | |
| XM_011516792.2:c.93C>A | XP_011515094.1:p.Asn31Lys | |
| NM_001135242.2:c.660C>A | NP_001128714.1:p.Asn220Lys | |
| NM_001258432.2:c.462C>A | NP_001245361.1:p.Asn154Lys | |
| NM_001258433.2:c.417C>A | NP_001245362.1:p.Asn139Lys | |
| NM_001374844.1:c.711C>A | NP_001361773.1:p.Asn237Lys | |
| NM_001374845.1:c.660C>A | NP_001361774.1:p.Asn220Lys | |
| NM_001374846.1:c.660C>A | NP_001361775.1:p.Asn220Lys | |
| NM_001374847.1:c.462C>A | NP_001361776.1:p.Asn154Lys | |
| NM_006096.4:c.660C>A MANE Select | NP_006087.2:p.Asn220Lys |