Linked Data
ClinVar Variation Id:
626471
ClinVar RCV Id:
RCV000769166
dbSNP Id:
rs1559520147
gnomAD v4:
3-46859537-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859537A>C , CM000665.2:g.46859537A>C | GRCh38 |
| NC_000003.11:g.46901027A>C , CM000665.1:g.46901027A>C | GRCh37 |
| NC_000003.10:g.46876031A>C | NCBI36 |
| NG_007555.2:g.27633T>G , LRG_395:g.27633T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.419T>G | ENSP00000393455.2:p.Phe140Cys | |
| ENST00000292327.6:c.419T>G MANE Select | ENSP00000292327.4:p.Phe140Cys | |
| ENST00000653454.1:c.419T>G | ENSP00000499624.1:p.Phe140Cys | |
| ENST00000654597.1:c.419T>G | ENSP00000499406.1:p.Phe140Cys | |
| ENST00000655244.1:n.641T>G | ||
| ENST00000662933.1:c.419T>G | ENSP00000499577.1:p.Phe140Cys | |
| ENST00000664891.1:n.377T>G | ||
| ENST00000292327.4:c.419T>G | ENSP00000292327.4:p.Phe140Cys | |
| ENST00000395869.5:c.419T>G | ENSP00000379210.1:p.Phe140Cys | |
| NM_000258.2:c.419T>G , LRG_395t1:c.419T>G | NP_000249.1:p.Phe140Cys | |
| NM_000258.3:c.419T>G MANE Select | NP_000249.1:p.Phe140Cys |