Linked Data
ClinVar Variation Id:
98180
dbSNP Id:
rs63750412
ExAC:
17:42429500 C / T
gnomAD v2:
17-42429500-C-T
gnomAD v3:
17-44352132-C-T
gnomAD v4:
17-44352132-C-T
MyVariant Identifiers:
chr17:g.42429500C>T (hg19)
chr17:g.42429500_42429501delinsTG (hg19)
chr17:g.44352132C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352132C>T , CM000679.2:g.44352132C>T | GRCh38 |
| NC_000017.10:g.42429500C>T , CM000679.1:g.42429500C>T | GRCh37 |
| NC_000017.9:g.39785026C>T | NCBI36 |
| NG_007886.1:g.12010C>T , LRG_661:g.12010C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.1297C>T MANE Select | ENSP00000053867.2:p.Arg433Trp | |
| ENST00000639447.1:c.1136+380C>T | ENSP00000492014.1:n.1136+380C>T | |
| ENST00000053867.7:c.1297C>T | ENSP00000053867.2:p.Arg433Trp | |
| ENST00000586443.1:c.738C>T | ||
| ENST00000589265.5:c.826C>T | ENSP00000467616.1:p.Arg276Trp | |
| NM_002087.3:c.1297C>T | NP_002078.1:p.Arg433Trp | |
| XM_005257253.1:c.1297C>T | XP_005257310.1:p.Arg433Trp | |
| XM_024450730.1:c.1297C>T | XP_024306498.1:p.Arg433Trp | |
| NM_002087.4:c.1297C>T MANE Select | NP_002078.1:p.Arg433Trp |