Linked Data
ClinVar Variation Id:
197362
ClinVar RCV Id:
RCV000178376
dbSNP Id:
rs149245323
ExAC:
20:30231212 C / T
gnomAD v2:
20-30231212-C-T
gnomAD v3:
20-31643409-C-T
gnomAD v4:
20-31643409-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31643409C>T , CM000682.2:g.31643409C>T | GRCh38 |
| NC_000020.10:g.30231212C>T , CM000682.1:g.30231212C>T | GRCh37 |
| NC_000020.9:g.29694873C>T | NCBI36 |
| NG_012180.1:g.10522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376075.4:c.253C>T MANE Select | ENSP00000365243.3:p.Arg85Trp | |
| ENST00000376075.3:c.253C>T | ENSP00000365243.3:p.Arg85Trp | |
| ENST00000490030.1:n.278-1359C>T | ||
| NM_032609.2:c.253C>T | NP_115998.2:p.Arg85Trp | |
| XM_005260579.3:c.268C>T | XP_005260636.1:p.Arg90Trp | |
| XM_005260580.3:c.263-1359C>T | XP_005260637.1:n.263-1359C>T | |
| XM_005260581.2:c.248-1359C>T | XP_005260638.1:n.248-1359C>T | |
| XM_011529086.1:c.154C>T | XP_011527388.1:p.Arg52Trp | |
| XM_005260579.4:c.268C>T | XP_005260636.1:p.Arg90Trp | |
| XM_005260580.4:c.263-1359C>T | XP_005260637.1:n.263-1359C>T | |
| XM_005260581.3:c.248-1359C>T | XP_005260638.1:n.248-1359C>T | |
| NM_032609.3:c.253C>T MANE Select | NP_115998.2:p.Arg85Trp |