Linked Data
ClinVar Variation Id:
486296
dbSNP Id:
rs754183765
gnomAD v4:
13-48476713-T-C
PubMed:
PMID:12173465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476713T>C , CM000675.2:g.48476713T>C | GRCh38 |
| NC_000013.10:g.49050849T>C , CM000675.1:g.49050849T>C | GRCh37 |
| NC_000013.9:g.47948850T>C | NCBI36 |
| NG_009009.1:g.177967T>C , LRG_517:g.177967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2533T>C MANE Select | ENSP00000267163.4:p.Phe845Leu | |
| ENST00000643064.1:c.194+95270T>C | ||
| ENST00000650461.1:c.2533T>C | ENSP00000497193.1:p.Phe845Leu | |
| ENST00000267163.4:c.2533T>C | ENSP00000267163.4:p.Phe845Leu | |
| ENST00000484879.1:n.267T>C | ||
| ENST00000531171.5:n.136T>C | ||
| NM_000321.2:c.2533T>C , LRG_517t1:c.2533T>C | NP_000312.2:p.Phe845Leu | |
| XM_011535171.1:c.2272T>C | XP_011533473.1:p.Phe758Leu | |
| XM_011535171.2:c.2272T>C | XP_011533473.1:p.Phe758Leu | |
| NM_000321.3:c.2533T>C MANE Select | NP_000312.2:p.Phe845Leu |