Linked Data
ClinVar Variation Id:
1468314
ClinVar RCV Id:
RCV001968921
dbSNP Id:
rs1413645692
gnomAD v3:
5-474991-A-C
gnomAD v4:
5-474991-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.474991A>C , CM000667.2:g.474991A>C | GRCh38 |
| NC_000005.9:g.475106A>C , CM000667.1:g.475106A>C | GRCh37 |
| NC_000005.8:g.528106A>C | NCBI36 |
| NG_046804.1:g.100438T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2393T>G (SLC9A3) MANE Select | ENSP00000264938.3:p.Phe798Cys | |
| ENST00000644203.1:c.2251+570T>G (SLC9A3) | ENSP00000495903.1:n.2251+570T>G | |
| ENST00000264938.7:c.2393T>G (SLC9A3) | ENSP00000264938.3:p.Phe798Cys | |
| ENST00000514375.1:c.2366T>G (SLC9A3) | ENSP00000422983.1:p.Phe789Cys | |
| NM_001284351.1:c.2366T>G (SLC9A3) | NP_001271280.1:p.Phe789Cys | |
| NM_004174.2:c.2393T>G (SLC9A3) | NP_004165.2:p.Phe798Cys | |
| NR_125375.1:n.165-146A>C (SLC9A3-AS1) | ||
| XM_011514098.1:c.2399T>G (SLC9A3) | XP_011512400.1:p.Phe800Cys | |
| NM_001284351.2:c.2366T>G (SLC9A3) | NP_001271280.1:p.Phe789Cys | |
| NM_004174.3:c.2393T>G (SLC9A3) | NP_004165.2:p.Phe798Cys | |
| NM_001284351.3:c.2366T>G (SLC9A3) | NP_001271280.1:p.Phe789Cys | |
| NM_004174.4:c.2393T>G (SLC9A3) MANE Select | NP_004165.2:p.Phe798Cys |