Linked Data
ClinVar Variation Id:
418468
dbSNP Id:
rs142392473
ExAC:
4:77095372 C / T
gnomAD v2:
4-77095372-C-T
gnomAD v3:
4-76174219-C-T
gnomAD v4:
4-76174219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76174219C>T , CM000666.2:g.76174219C>T | GRCh38 |
| NC_000004.11:g.77095372C>T , CM000666.1:g.77095372C>T | GRCh37 |
| NC_000004.10:g.77314396C>T | NCBI36 |
| NG_012054.1:g.44664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.895G>A | ||
| ENST00000264896.8:c.919G>A MANE Select | ENSP00000264896.2:p.Asp307Asn | |
| ENST00000638295.1:c.445G>A | ENSP00000492288.1:p.Asp149Asn | |
| ENST00000638372.1:n.1171G>A | ||
| ENST00000638409.1:n.1234G>A | ||
| ENST00000638603.1:c.799G>A | ENSP00000491728.1:p.Asp267Asn | |
| ENST00000638663.1:c.919G>A | ENSP00000491407.1:p.Asp307Asn | |
| ENST00000638680.1:n.2500G>A | ||
| ENST00000638843.1:n.912G>A | ||
| ENST00000639145.1:c.910G>A | ENSP00000492831.1:p.Asp304Asn | |
| ENST00000639300.1:c.*206G>A | ENSP00000492840.1:n.*206G>A | |
| ENST00000639715.1:c.874G>A | ||
| ENST00000639738.1:c.276-7918G>A | ENSP00000491792.1:n.276-7918G>A | |
| ENST00000640076.1:n.500G>A | ||
| ENST00000640341.1:c.*559G>A | ENSP00000492714.1:n.*559G>A | |
| ENST00000640634.1:c.1040G>A | ||
| ENST00000640640.1:c.919G>A | ENSP00000492246.1:p.Asp307Asn | |
| ENST00000640957.1:c.919G>A | ENSP00000492004.1:p.Asp307Asn | |
| ENST00000264896.6:c.919G>A | ENSP00000264896.2:p.Asp307Asn | |
| ENST00000452464.6:c.490G>A | ENSP00000399154.2:p.Asp164Asn | |
| NM_001204255.1:c.490G>A | NP_001191184.1:p.Asp164Asn | |
| NM_005506.3:c.919G>A | NP_005497.1:p.Asp307Asn | |
| NM_005506.4:c.919G>A MANE Select | NP_005497.1:p.Asp307Asn | |
| NM_001204255.2:c.490G>A | NP_001191184.1:p.Asp164Asn |