Linked Data
ClinVar Variation Id:
1694842
ClinVar RCV Id:
RCV002263092
dbSNP Id:
rs765544134
ExAC:
17:39739853 G / A
gnomAD v2:
17-39739853-G-A
gnomAD v3:
17-41583601-G-A
gnomAD v4:
17-41583601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583601G>A , CM000679.2:g.41583601G>A | GRCh38 |
| NC_000017.10:g.39739853G>A , CM000679.1:g.39739853G>A | GRCh37 |
| NC_000017.9:g.36993379G>A | NCBI36 |
| NG_008624.1:g.8295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1003C>T MANE Select | ENSP00000167586.6:p.Arg335Trp | |
| ENST00000167586.6:c.1003C>T | ENSP00000167586.6:p.Arg335Trp | |
| ENST00000476662.1:n.453C>T | ||
| NM_000526.4:c.1003C>T | NP_000517.2:p.Arg335Trp | |
| NM_000526.5:c.1003C>T MANE Select | NP_000517.3:p.Arg335Trp |