Linked Data
ClinVar Variation Id:
983398
dbSNP Id:
rs530062090
ExAC:
17:40688643 C / T
gnomAD v2:
17-40688643-C-T
gnomAD v3:
17-42536625-C-T
gnomAD v4:
17-42536625-C-T
MyVariant Identifiers:
chr17:g.40688643C>T (hg19)
chr17:g.40688643_40688644delinsTG (hg19)
chr17:g.42536625C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536625C>T , CM000679.2:g.42536625C>T | GRCh38 |
| NC_000017.10:g.40688643C>T , CM000679.1:g.40688643C>T | GRCh37 |
| NC_000017.9:g.37942169C>T | NCBI36 |
| NG_011552.1:g.5693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.353C>T MANE Select | ENSP00000225927.1:p.Pro118Leu | |
| ENST00000225927.6:c.353C>T | ENSP00000225927.1:p.Pro118Leu | |
| ENST00000586516.5:c.103C>T | ||
| ENST00000591587.1:c.96C>T | ENSP00000467836.1:p.Ala32= | |
| NM_000263.3:c.353C>T | NP_000254.2:p.Pro118Leu | |
| XM_006721920.2:c.-390C>T | XP_006721983.1:n.-390C>T | |
| XM_011524840.1:c.-390C>T | XP_011523142.1:n.-390C>T | |
| XM_024450771.1:c.353C>T | XP_024306539.1:p.Pro118Leu | |
| NM_000263.4:c.353C>T MANE Select | NP_000254.2:p.Pro118Leu |