Linked Data
ClinVar Variation Id:
1952132
ClinVar RCV Id:
RCV002676753
dbSNP Id:
rs958814324
gnomAD v2:
16-1497452-G-A
gnomAD v3:
16-1447451-G-A
gnomAD v4:
16-1447451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447451G>A , CM000678.2:g.1447451G>A | GRCh38 |
| NC_000016.9:g.1497452G>A , CM000678.1:g.1497452G>A | GRCh37 |
| NC_000016.8:g.1437453G>A | NCBI36 |
| NG_007567.1:g.32634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.2191C>T | ENSP00000514703.1:p.Arg731Trp | |
| ENST00000699948.1:c.*504C>T | ENSP00000514704.1:n.*504C>T | |
| ENST00000382745.9:c.2191C>T MANE Select | ENSP00000372193.4:p.Arg731Trp | |
| ENST00000262318.12:c.2119C>T | ENSP00000262318.8:p.Arg707Trp | |
| ENST00000382745.8:c.2191C>T | ENSP00000372193.4:p.Arg731Trp | |
| ENST00000448525.5:c.2119C>T | ENSP00000410907.1:p.Arg707Trp | |
| ENST00000563642.6:n.2260C>T | ||
| ENST00000565092.6:n.1226C>T | ||
| ENST00000567836.2:n.432C>T | ||
| NM_001114331.2:c.2119C>T | NP_001107803.1:p.Arg707Trp | |
| NM_001287.5:c.2191C>T | NP_001278.1:p.Arg731Trp | |
| XM_011522354.1:c.2017C>T | XP_011520656.1:p.Arg673Trp | |
| NM_001287.6:c.2191C>T MANE Select | NP_001278.1:p.Arg731Trp | |
| NM_001114331.3:c.2119C>T | NP_001107803.1:p.Arg707Trp |