Linked Data
ClinVar Variation Id:
161603
ClinVar RCV Id:
RCV000149139
dbSNP Id:
rs193921084
COSMIC:
COSM5521426
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153548461C>A , CM000663.2:g.153548461C>A | GRCh38 |
| NC_000001.10:g.153520937C>A , CM000663.1:g.153520937C>A | GRCh37 |
| NC_000001.9:g.151787561C>A | NCBI36 |
| NG_027993.1:g.2346G>T | |
| NG_046928.1:g.5798G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368713.8:c.25G>T (S100A3) MANE Select | ENSP00000357702.3:p.Val9Leu | |
| ENST00000368712.1:c.25G>T (S100A3) | ENSP00000357701.1:p.Val9Leu | |
| ENST00000368713.7:c.25G>T (S100A3) | ENSP00000357702.3:p.Val9Leu | |
| ENST00000368714.1:c.-16+1604G>T (S100A4) | ENSP00000357703.1:n.-16+1604G>T | |
| NM_002960.1:c.25G>T (S100A3) | NP_002951.1:p.Val9Leu | |
| NR_125947.1:n.209C>A | ||
| NM_002960.2:c.25G>T (S100A3) MANE Select | NP_002951.1:p.Val9Leu |