Linked Data
ClinVar Variation Id:
1119042
ClinVar RCV Id:
RCV001448366
dbSNP Id:
rs539704026
ExAC:
5:139494435 C / T
gnomAD v3:
5-140114850-C-T
gnomAD v4:
5-140114850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114850C>T , CM000667.2:g.140114850C>T | GRCh38 |
| NC_000005.9:g.139494435C>T , CM000667.1:g.139494435C>T | GRCh37 |
| NC_000005.8:g.139474619C>T | NCBI36 |
| NG_041813.1:g.5728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.669C>T MANE Select | ENSP00000332706.3:p.Ser223= | |
| ENST00000651386.1:c.669C>T | ENSP00000499133.1:p.Ser223= | |
| ENST00000331327.4:c.669C>T | ENSP00000332706.3:p.Ser223= | |
| NM_005859.4:c.669C>T | NP_005850.1:p.Ser223= | |
| NM_005859.5:c.669C>T MANE Select | NP_005850.1:p.Ser223= |