Linked Data
ClinVar Variation Id:
318401
dbSNP Id:
rs375124752
ExAC:
16:2333195 G / A
gnomAD v2:
16-2333195-G-A
gnomAD v3:
16-2283194-G-A
gnomAD v4:
16-2283194-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2283194G>A , CM000678.2:g.2283194G>A | GRCh38 |
| NC_000016.9:g.2333195G>A , CM000678.1:g.2333195G>A | GRCh37 |
| NC_000016.8:g.2273196G>A | NCBI36 |
| NG_011790.1:g.62553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4027C>T MANE Select | ENSP00000301732.5:p.Arg1343Trp | |
| ENST00000301732.9:c.4027C>T | ENSP00000301732.5:p.Arg1343Trp | |
| ENST00000382381.7:c.3853C>T | ENSP00000371818.3:p.Arg1285Trp | |
| ENST00000566200.1:n.548C>T | ||
| ENST00000569062.1:n.779C>T | ||
| NM_001089.2:c.4027C>T | NP_001080.2:p.Arg1343Trp | |
| NM_001089.3:c.4027C>T MANE Select | NP_001080.2:p.Arg1343Trp |