Linked Data
ClinVar Variation Id:
470599
dbSNP Id:
rs529403382
gnomAD v2:
10-112572526-C-T
gnomAD v3:
10-110812768-C-T
gnomAD v4:
10-110812768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812768C>T , CM000672.2:g.110812768C>T | GRCh38 |
| NC_000010.10:g.112572526C>T , CM000672.1:g.112572526C>T | GRCh37 |
| NC_000010.9:g.112562516C>T | NCBI36 |
| NG_021177.1:g.173372C>T , LRG_382:g.173372C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.2371C>T MANE Select | ENSP00000358532.3:p.Arg791Trp | |
| ENST00000369519.3:c.2371C>T | ENSP00000358532.3:p.Arg791Trp | |
| NM_001134363.2:c.2371C>T | NP_001127835.2:p.Arg791Trp | |
| XM_011539697.1:c.1987C>T | XP_011537999.1:p.Arg663Trp | |
| XM_017016103.2:c.2206C>T | XP_016871592.1:p.Arg736Trp | |
| XM_017016104.2:c.1987C>T | XP_016871593.1:p.Arg663Trp | |
| NM_001134363.3:c.2371C>T MANE Select | NP_001127835.2:p.Arg791Trp |