Linked Data
ClinVar Variation Id:
135000
dbSNP Id:
rs115889954
ExAC:
9:37006494 C / T
gnomAD v2:
9-37006494-C-T
gnomAD v3:
9-37006497-C-T
gnomAD v4:
9-37006497-C-T
COSMIC:
COSM303899
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37006497C>T , CM000671.2:g.37006497C>T | GRCh38 |
| NC_000009.11:g.37006494C>T , CM000671.1:g.37006494C>T | GRCh37 |
| NC_000009.10:g.36996494C>T | NCBI36 |
| NG_033894.1:g.32983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358127.9:c.451G>A MANE Select | ENSP00000350844.4:p.Val151Ile | |
| ENST00000377852.7:c.451G>A | ENSP00000367083.2:p.Val151Ile | |
| ENST00000520154.6:c.451G>A | ENSP00000429291.1:p.Val151Ile | |
| ENST00000523241.6:c.451G>A | ENSP00000429637.1:p.Val151Ile | |
| ENST00000651199.1:n.210-3721G>A | ||
| ENST00000651550.1:c.127G>A | ENSP00000498443.1:p.Val43Ile | |
| ENST00000358127.8:c.451G>A | ENSP00000350844.4:p.Val151Ile | |
| ENST00000377840.6:c.451G>A | ENSP00000367071.2:p.Val151Ile | |
| ENST00000377847.6:c.451G>A | ENSP00000367078.2:p.Val151Ile | |
| ENST00000377852.6:c.451G>A | ENSP00000367083.2:p.Val151Ile | |
| ENST00000377853.6:c.451G>A | ENSP00000367084.2:p.Val151Ile | |
| ENST00000414447.5:c.451G>A | ENSP00000412188.1:p.Val151Ile | |
| ENST00000446742.5:c.253G>A | ENSP00000404687.1:p.Val85Ile | |
| ENST00000520154.5:c.451G>A | ENSP00000429291.1:p.Val151Ile | |
| ENST00000520281.5:c.451G>A | ENSP00000430773.1:p.Val151Ile | |
| ENST00000522003.5:c.127G>A | ENSP00000429359.1:p.Val43Ile | |
| ENST00000523145.5:c.127G>A | ENSP00000429197.1:p.Val43Ile | |
| ENST00000523241.5:c.451G>A | ENSP00000429637.1:p.Val151Ile | |
| ENST00000523493.5:c.451G>A | ENSP00000431038.1:p.Val151Ile | |
| NM_001280547.1:c.451G>A | NP_001267476.1:p.Val151Ile | |
| NM_001280548.1:c.451G>A | NP_001267477.1:p.Val151Ile | |
| NM_001280549.1:c.451G>A | NP_001267478.1:p.Val151Ile | |
| NM_001280550.1:c.451G>A | NP_001267479.1:p.Val151Ile | |
| NM_001280551.1:c.127G>A | NP_001267480.1:p.Val43Ile | |
| NM_001280552.1:c.451G>A | NP_001267481.1:p.Val151Ile | |
| NM_001280553.1:c.451G>A | NP_001267482.1:p.Val151Ile | |
| NM_001280554.1:c.451G>A | NP_001267483.1:p.Val151Ile | |
| NM_001280555.1:c.253G>A | NP_001267484.1:p.Val85Ile | |
| NM_001280556.1:c.127G>A | NP_001267485.1:p.Val43Ile | |
| NM_016734.2:c.451G>A | NP_057953.1:p.Val151Ile | |
| NR_103999.1:n.899G>A | ||
| NR_104000.1:n.899G>A | ||
| XM_005251481.3:c.448G>A | XP_005251538.1:p.Val150Ile | |
| XM_011517896.1:c.451G>A | XP_011516198.1:p.Val151Ile | |
| XM_011517897.1:c.448G>A | XP_011516199.1:p.Val150Ile | |
| XR_929591.1:n.2216+484C>T | ||
| XR_929592.1:n.670+484C>T | ||
| XR_001746663.1:n.149-953C>T | ||
| XR_001746664.1:n.393+484C>T | ||
| XR_929591.2:n.2221+484C>T | ||
| NM_016734.3:c.451G>A MANE Select | NP_057953.1:p.Val151Ile | |
| NM_001280547.2:c.451G>A | NP_001267476.1:p.Val151Ile | |
| NM_001280548.2:c.451G>A | NP_001267477.1:p.Val151Ile | |
| NM_001280549.2:c.451G>A | NP_001267478.1:p.Val151Ile | |
| NM_001280550.2:c.451G>A | NP_001267479.1:p.Val151Ile | |
| NM_001280551.2:c.127G>A | NP_001267480.1:p.Val43Ile | |
| NM_001280552.2:c.451G>A | NP_001267481.1:p.Val151Ile | |
| NM_001280553.2:c.451G>A | NP_001267482.1:p.Val151Ile | |
| NM_001280554.2:c.451G>A | NP_001267483.1:p.Val151Ile | |
| NM_001280555.2:c.253G>A | NP_001267484.1:p.Val85Ile | |
| NM_001280556.2:c.127G>A | NP_001267485.1:p.Val43Ile | |
| NR_103999.2:n.688G>A | ||
| NR_104000.2:n.688G>A |