Linked Data
ClinVar Variation Id:
16228
dbSNP Id:
rs267606833
gnomAD v2:
16-31202748-A-T
PubMed:
PMID:20385912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191427A>T , CM000678.2:g.31191427A>T | GRCh38 |
| NC_000016.9:g.31202748A>T , CM000678.1:g.31202748A>T | GRCh37 |
| NC_000016.8:g.31110249A>T | NCBI36 |
| NG_012889.2:g.16296A>T , LRG_655:g.16296A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254108.12:c.1570A>T MANE Select | ENSP00000254108.8:p.Arg524Trp | |
| ENST00000254108.11:c.1570A>T | ENSP00000254108.7:p.Arg524Trp | |
| ENST00000380244.7:c.1567A>T | ENSP00000369594.3:p.Arg523Trp | |
| ENST00000483853.1:n.647A>T | ||
| ENST00000487509.6:n.4745A>T | ||
| ENST00000566605.5:c.*743A>T | ENSP00000455073.1:n.*743A>T | |
| ENST00000568685.1:c.1573A>T | ENSP00000455282.1:p.Arg525Trp | |
| ENST00000569760.5:n.461A>T | ||
| NM_001170634.1:c.1567A>T | NP_001164105.1:p.Arg523Trp | |
| NM_001170937.1:c.1558A>T | NP_001164408.1:p.Arg520Trp | |
| NM_004960.3:c.1570A>T , LRG_655t1:c.1570A>T | NP_004951.1:p.Arg524Trp | |
| NR_028388.2:n.1640A>T | ||
| XM_005255233.3:c.955A>T | XP_005255290.1:p.Arg319Trp | |
| XM_011545781.1:c.1564A>T | XP_011544083.1:p.Arg522Trp | |
| XM_011545782.1:c.955A>T | XP_011544084.1:p.Arg319Trp | |
| XM_005255233.5:c.955A>T | XP_005255290.1:p.Arg319Trp | |
| XM_011545782.2:c.955A>T | XP_011544084.1:p.Arg319Trp | |
| XM_024450221.1:c.1561A>T | XP_024305989.1:p.Arg521Trp | |
| NM_004960.4:c.1570A>T MANE Select | NP_004951.1:p.Arg524Trp |