Linked Data
ClinVar Variation Id:
2035822
ClinVar RCV Id:
RCV002894501
dbSNP Id:
rs2052467760
gnomAD v4:
17-56594426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594426C>T , CM000679.2:g.56594426C>T | GRCh38 |
| NC_000017.10:g.54671787C>T , CM000679.1:g.54671787C>T | GRCh37 |
| NC_000017.9:g.52026786C>T | NCBI36 |
| NG_011958.1:g.5728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.203C>T MANE Select | ENSP00000328181.4:p.Ser68Leu | |
| ENST00000332822.4:c.203C>T | ENSP00000328181.4:p.Ser68Leu | |
| NM_005450.4:c.203C>T | NP_005441.1:p.Ser68Leu | |
| NM_005450.6:c.203C>T MANE Select | NP_005441.1:p.Ser68Leu |