Linked Data
ClinVar Variation Id:
2925
ClinVar RCV Id:
RCV000003059
dbSNP Id:
rs28942110
ExAC:
5:133942700 A / T
gnomAD v2:
5-133942700-A-T
gnomAD v3:
5-134607010-A-T
gnomAD v4:
5-134607010-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134607010A>T , CM000667.2:g.134607010A>T | GRCh38 |
| NC_000005.9:g.133942700A>T , CM000667.1:g.133942700A>T | GRCh37 |
| NC_000005.8:g.133970599A>T | NCBI36 |
| NG_017002.1:g.30834T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402673.7:c.537T>A MANE Select | ENSP00000385432.2:p.Ser179Arg | |
| ENST00000402673.6:c.537T>A | ENSP00000385432.2:p.Ser179Arg | |
| ENST00000439578.5:c.537T>A | ENSP00000404997.1:p.Ser179Arg | |
| ENST00000502539.5:c.333T>A | ENSP00000426335.1:p.Ser111Arg | |
| ENST00000503318.5:c.*260T>A | ENSP00000425367.1:n.*260T>A | |
| ENST00000507419.5:c.333T>A | ENSP00000425339.1:p.Ser111Arg | |
| ENST00000508363.5:n.2506T>A | ||
| ENST00000509730.5:c.333T>A | ENSP00000423197.1:p.Ser111Arg | |
| ENST00000509937.5:c.333T>A | ENSP00000424673.1:p.Ser111Arg | |
| NM_001033503.2:c.537T>A | NP_001028675.1:p.Ser179Arg | |
| NM_016103.3:c.537T>A | NP_057187.1:p.Ser179Arg | |
| NM_016103.4:c.537T>A MANE Select | NP_057187.1:p.Ser179Arg | |
| NM_001033503.3:c.537T>A | NP_001028675.1:p.Ser179Arg |