Linked Data
ClinVar Variation Id:
449287
dbSNP Id:
rs117600063
ExAC:
4:77100852 T / A
gnomAD v2:
4-77100852-T-A
gnomAD v3:
4-76179699-T-A
gnomAD v4:
4-76179699-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76179699T>A , CM000666.2:g.76179699T>A | GRCh38 |
| NC_000004.11:g.77100852T>A , CM000666.1:g.77100852T>A | GRCh37 |
| NC_000004.10:g.77319876T>A | NCBI36 |
| NG_012054.1:g.39184A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.406A>T | ||
| ENST00000264896.8:c.430A>T MANE Select | ENSP00000264896.2:p.Ile144Leu | |
| ENST00000502908.2:n.1931A>T | ||
| ENST00000638295.1:c.-45A>T | ENSP00000492288.1:n.-45A>T | |
| ENST00000638372.1:n.682A>T | ||
| ENST00000638603.1:c.430A>T | ENSP00000491728.1:p.Ile144Leu | |
| ENST00000638663.1:c.430A>T | ENSP00000491407.1:p.Ile144Leu | |
| ENST00000638680.1:n.2011A>T | ||
| ENST00000639145.1:c.421A>T | ENSP00000492831.1:p.Ile141Leu | |
| ENST00000639300.1:c.430A>T | ENSP00000492840.1:p.Ile144Leu | |
| ENST00000639324.1:n.529A>T | ||
| ENST00000639715.1:c.389-4A>T | ||
| ENST00000639738.1:c.276-13398A>T | ENSP00000491792.1:n.276-13398A>T | |
| ENST00000640076.1:n.11A>T | ||
| ENST00000640341.1:c.*70A>T | ENSP00000492714.1:n.*70A>T | |
| ENST00000640634.1:c.551A>T | ||
| ENST00000640640.1:c.430A>T | ENSP00000492246.1:p.Ile144Leu | |
| ENST00000640916.1:n.358A>T | ||
| ENST00000640957.1:c.430A>T | ENSP00000492004.1:p.Ile144Leu | |
| ENST00000264896.6:c.430A>T | ENSP00000264896.2:p.Ile144Leu | |
| ENST00000452464.6:c.276-3789A>T | ENSP00000399154.2:n.276-3789A>T | |
| NM_001204255.1:c.276-3789A>T | NP_001191184.1:n.276-3789A>T | |
| NM_005506.3:c.430A>T | NP_005497.1:p.Ile144Leu | |
| NM_005506.4:c.430A>T MANE Select | NP_005497.1:p.Ile144Leu | |
| NM_001204255.2:c.276-3789A>T | NP_001191184.1:n.276-3789A>T |