Linked Data
ClinVar Variation Id:
3198166
ClinVar RCV Id:
RCV004492554
dbSNP Id:
rs780060820
ExAC:
16:30567030 G / A
gnomAD v2:
16-30567030-G-A
gnomAD v4:
16-30555709-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30555709G>A , CM000678.2:g.30555709G>A | GRCh38 |
| NC_000016.9:g.30567030G>A , CM000678.1:g.30567030G>A | GRCh37 |
| NC_000016.8:g.30474531G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395091.3:c.709C>T MANE Select | ENSP00000378526.2:p.Arg237Trp | |
| ENST00000252797.6:c.712C>T | ENSP00000252797.2:p.Arg238Trp | |
| ENST00000395091.2:c.709C>T | ENSP00000378526.2:p.Arg237Trp | |
| ENST00000568114.1:c.196+2278C>T | ENSP00000455659.1:n.196+2278C>T | |
| ENST00000568333.1:n.878C>T | ||
| NM_001172679.1:c.709C>T | NP_001166150.1:p.Arg237Trp | |
| NM_033410.3:c.712C>T | NP_219363.2:p.Arg238Trp | |
| NM_001172679.2:c.709C>T MANE Select | NP_001166150.1:p.Arg237Trp | |
| NM_033410.4:c.712C>T | NP_219363.2:p.Arg238Trp |