Linked Data
ClinVar Variation Id:
1540
dbSNP Id:
rs118204069
gnomAD v2:
8-19809367-T-C
gnomAD v3:
8-19951856-T-C
gnomAD v4:
8-19951856-T-C
PubMed:
PMID:1598907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951856T>C , CM000670.2:g.19951856T>C | GRCh38 |
| NC_000008.10:g.19809367T>C , CM000670.1:g.19809367T>C | GRCh37 |
| NC_000008.9:g.19853647T>C | NCBI36 |
| NG_008855.1:g.17786T>C | |
| NG_008855.2:g.55140T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.337T>C MANE Select | ENSP00000497642.1:p.Trp113Arg | |
| ENST00000311322.8:c.337T>C | ENSP00000309757.6:p.Trp113Arg | |
| ENST00000520959.5:c.109T>C | ENSP00000428496.1:p.Trp37Arg | |
| ENST00000524029.5:c.337T>C | ENSP00000428237.1:p.Trp113Arg | |
| NM_000237.2:c.337T>C | NP_000228.1:p.Trp113Arg | |
| NM_000237.3:c.337T>C MANE Select | NP_000228.1:p.Trp113Arg |