Linked Data
ClinVar Variation Id:
15890
ClinVar RCV Id:
RCV000017236
dbSNP Id:
rs35059618
gnomAD v4:
16-177295-T-A
PubMed:
PMID:16114179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177295T>A , CM000678.2:g.177295T>A | GRCh38 |
| NC_000016.9:g.227294T>A , CM000678.1:g.227294T>A | GRCh37 |
| NC_000016.8:g.167294T>A | NCBI36 |
| NG_000006.1:g.38158T>A | |
| NG_059186.1:g.5645T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.313T>A MANE Select | ENSP00000322421.5:p.Cys105Ser | |
| ENST00000397797.1:c.217T>A | ENSP00000380899.1:p.Cys73Ser | |
| ENST00000472694.1:n.449T>A | ||
| NM_000558.4:c.313T>A | NP_000549.1:p.Cys105Ser | |
| NM_000558.5:c.313T>A MANE Select | NP_000549.1:p.Cys105Ser |