Linked Data
ClinVar Variation Id:
427979
ClinVar RCV Id:
RCV000498414
dbSNP Id:
rs868793059
gnomAD v3:
11-118168201-G-A
gnomAD v4:
11-118168201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168201G>A , CM000673.2:g.118168201G>A | GRCh38 |
| NC_000011.9:g.118038916G>A , CM000673.1:g.118038916G>A | GRCh37 |
| NC_000011.8:g.117544126G>A | NCBI36 |
| NG_042217.1:g.13422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.332C>T MANE Select | ENSP00000278947.5:p.Ser111Leu | |
| ENST00000658882.1:c.*157C>T | ENSP00000499572.1:n.*157C>T | |
| ENST00000665446.1:n.568C>T | ||
| ENST00000669850.1:n.574C>T | ||
| ENST00000278947.5:c.332C>T | ENSP00000278947.5:p.Ser111Leu | |
| NM_004588.4:c.332C>T | NP_004579.1:p.Ser111Leu | |
| NM_004588.5:c.332C>T MANE Select | NP_004579.1:p.Ser111Leu |