Linked Data
ClinVar Variation Id:
2261593
ClinVar RCV Id:
RCV004119848
dbSNP Id:
rs200723320
ExAC:
10:6262817 C / T
gnomAD v2:
10-6262817-C-T
gnomAD v3:
10-6220854-C-T
gnomAD v4:
10-6220854-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6220854C>T , CM000672.2:g.6220854C>T | GRCh38 |
| NC_000010.10:g.6262817C>T , CM000672.1:g.6262817C>T | GRCh37 |
| NC_000010.9:g.6302823C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360521.7:c.820C>T | ENSP00000353712.2:p.Arg274Trp | |
| ENST00000379775.9:c.820C>T MANE Select | ENSP00000369100.4:p.Arg274Trp | |
| ENST00000536985.6:c.862C>T | ENSP00000443319.2:p.Arg288Trp | |
| ENST00000640683.1:c.820C>T | ENSP00000492001.1:p.Arg274Trp | |
| ENST00000317350.8:c.820C>T | ENSP00000369105.3:p.Arg274Trp | |
| ENST00000360521.6:c.820C>T | ENSP00000353712.2:p.Arg274Trp | |
| ENST00000379775.8:c.820C>T | ENSP00000369100.4:p.Arg274Trp | |
| ENST00000379785.5:c.820C>T | ENSP00000369111.1:p.Arg274Trp | |
| ENST00000379789.8:c.760C>T | ENSP00000369115.4:p.Arg254Trp | |
| ENST00000461744.5:c.820C>T | ENSP00000433771.1:p.Arg274Trp | |
| ENST00000467491.5:c.820C>T | ENSP00000434628.1:p.Arg274Trp | |
| ENST00000477914.5:c.820C>T | ENSP00000432356.1:p.Arg274Trp | |
| ENST00000490474.5:c.820C>T | ENSP00000436885.1:p.Arg274Trp | |
| ENST00000536985.5:c.862C>T | ENSP00000443319.2:p.Arg288Trp | |
| ENST00000625260.2:c.820C>T | ENSP00000486311.1:p.Arg274Trp | |
| ENST00000626882.2:c.820C>T | ENSP00000487277.1:p.Arg274Trp | |
| NM_001145443.1:c.760C>T | NP_001138915.1:p.Arg254Trp | |
| NM_001145443.2:c.760C>T | NP_001138915.1:p.Arg254Trp | |
| NM_001282630.1:c.862C>T | NP_001269559.1:p.Arg288Trp | |
| NM_001282630.2:c.862C>T | NP_001269559.1:p.Arg288Trp | |
| NM_001314063.1:c.820C>T | NP_001300992.1:p.Arg274Trp | |
| NM_004566.3:c.820C>T | NP_004557.1:p.Arg274Trp | |
| XM_005252464.1:c.820C>T | XP_005252521.1:p.Arg274Trp | |
| XM_011519492.1:c.820C>T | XP_011517794.1:p.Arg274Trp | |
| XM_011519493.1:c.820C>T | XP_011517795.1:p.Arg274Trp | |
| NM_001323016.1:c.760C>T | NP_001309945.1:p.Arg254Trp | |
| NM_001323017.1:c.271C>T | NP_001309946.1:p.Arg91Trp | |
| NM_001363545.1:c.820C>T | NP_001350474.1:p.Arg274Trp | |
| NR_136554.1:n.930C>T | ||
| XM_005252464.2:c.820C>T | XP_005252521.1:p.Arg274Trp | |
| XM_011519493.2:c.820C>T | XP_011517795.1:p.Arg274Trp | |
| XM_017016326.2:c.763C>T | XP_016871815.1:p.Arg255Trp | |
| XM_017016327.2:c.760C>T | XP_016871816.1:p.Arg254Trp | |
| XM_017016328.2:c.820C>T | XP_016871817.1:p.Arg274Trp | |
| XM_017016329.2:c.763C>T | XP_016871818.1:p.Arg255Trp | |
| XM_024448037.1:c.271C>T | XP_024303805.1:p.Arg91Trp | |
| NM_004566.4:c.820C>T MANE Select | NP_004557.1:p.Arg274Trp | |
| NM_001145443.3:c.760C>T | NP_001138915.1:p.Arg254Trp | |
| NM_001314063.2:c.820C>T | NP_001300992.1:p.Arg274Trp | |
| NM_001323016.2:c.760C>T | NP_001309945.1:p.Arg254Trp | |
| NM_001323017.2:c.271C>T | NP_001309946.1:p.Arg91Trp | |
| NM_001363545.2:c.820C>T | NP_001350474.1:p.Arg274Trp | |
| NR_136554.2:n.887C>T | ||
| NM_001282630.3:c.862C>T | NP_001269559.1:p.Arg288Trp |