Linked Data
ClinVar Variation Id:
1905883
ClinVar RCV Id:
RCV002588907
dbSNP Id:
rs1220909791
gnomAD v2:
5-475096-C-T
gnomAD v3:
5-474981-C-T
gnomAD v4:
5-474981-C-T
COSMIC:
COSM3855435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.474981C>T , CM000667.2:g.474981C>T | GRCh38 |
| NC_000005.9:g.475096C>T , CM000667.1:g.475096C>T | GRCh37 |
| NC_000005.8:g.528096C>T | NCBI36 |
| NG_046804.1:g.100448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2403G>A (SLC9A3) MANE Select | ENSP00000264938.3:p.Leu801= | |
| ENST00000644203.1:c.2251+580G>A (SLC9A3) | ENSP00000495903.1:n.2251+580G>A | |
| ENST00000264938.7:c.2403G>A (SLC9A3) | ENSP00000264938.3:p.Leu801= | |
| ENST00000514375.1:c.2376G>A (SLC9A3) | ENSP00000422983.1:p.Leu792= | |
| NM_001284351.1:c.2376G>A (SLC9A3) | NP_001271280.1:p.Leu792= | |
| NM_004174.2:c.2403G>A (SLC9A3) | NP_004165.2:p.Leu801= | |
| NR_125375.1:n.165-156C>T (SLC9A3-AS1) | ||
| XM_011514098.1:c.2409G>A (SLC9A3) | XP_011512400.1:p.Leu803= | |
| NM_001284351.2:c.2376G>A (SLC9A3) | NP_001271280.1:p.Leu792= | |
| NM_004174.3:c.2403G>A (SLC9A3) | NP_004165.2:p.Leu801= | |
| NM_001284351.3:c.2376G>A (SLC9A3) | NP_001271280.1:p.Leu792= | |
| NM_004174.4:c.2403G>A (SLC9A3) MANE Select | NP_004165.2:p.Leu801= |