Linked Data
ClinVar Variation Id:
4243
dbSNP Id:
rs121908107
ExAC:
20:30408136 C / T
gnomAD v2:
20-30408136-C-T
gnomAD v3:
20-31820333-C-T
gnomAD v4:
20-31820333-C-T
PubMed:
PMID:11733062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820333C>T , CM000682.2:g.31820333C>T | GRCh38 |
| NC_000020.10:g.30408136C>T , CM000682.1:g.30408136C>T | GRCh37 |
| NC_000020.9:g.29871797C>T | NCBI36 |
| NG_012847.1:g.5959C>T , LRG_392:g.5959C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375985.5:c.260C>T MANE Select | ENSP00000365152.4:p.Ala87Val | |
| ENST00000375985.4:c.260C>T | ENSP00000365152.4:p.Ala87Val | |
| ENST00000375994.6:c.260C>T | ENSP00000365162.2:p.Ala87Val | |
| NM_033118.3:c.260C>T , LRG_392t1:c.260C>T | NP_149109.1:p.Ala87Val | |
| XR_244155.1:n.425C>T | ||
| NM_033118.4:c.260C>T MANE Select | NP_149109.1:p.Ala87Val |