Linked Data
ClinVar Variation Id:
410942
dbSNP Id:
rs556201144
gnomAD v2:
13-48937016-C-T
gnomAD v4:
13-48362880-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362880C>T , CM000675.2:g.48362880C>T | GRCh38 |
| NC_000013.10:g.48937016C>T , CM000675.1:g.48937016C>T | GRCh37 |
| NC_000013.9:g.47835017C>T | NCBI36 |
| NG_009009.1:g.64134C>T , LRG_517:g.64134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.784C>T MANE Select | ENSP00000267163.4:p.Arg262Trp | |
| ENST00000650461.1:c.784C>T | ENSP00000497193.1:p.Arg262Trp | |
| ENST00000267163.4:c.784C>T | ENSP00000267163.4:p.Arg262Trp | |
| ENST00000467505.5:c.*152C>T | ENSP00000434702.1:n.*152C>T | |
| NM_000321.2:c.784C>T , LRG_517t1:c.784C>T | NP_000312.2:p.Arg262Trp | |
| XM_011535171.1:c.523C>T | XP_011533473.1:p.Arg175Trp | |
| XM_011535171.2:c.523C>T | XP_011533473.1:p.Arg175Trp | |
| NM_000321.3:c.784C>T MANE Select | NP_000312.2:p.Arg262Trp |