Linked Data
ClinVar Variation Id:
1904457
ClinVar RCV Id:
RCV002577698
dbSNP Id:
rs754007631
ExAC:
5:475008 A / G
gnomAD v2:
5-475008-A-G
gnomAD v3:
5-474893-A-G
gnomAD v4:
5-474893-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.474893A>G , CM000667.2:g.474893A>G | GRCh38 |
| NC_000005.9:g.475008A>G , CM000667.1:g.475008A>G | GRCh37 |
| NC_000005.8:g.528008A>G | NCBI36 |
| NG_046804.1:g.100536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2491T>C (SLC9A3) MANE Select | ENSP00000264938.3:p.Ser831Pro | |
| ENST00000644203.1:c.2251+668T>C (SLC9A3) | ENSP00000495903.1:n.2251+668T>C | |
| ENST00000264938.7:c.2491T>C (SLC9A3) | ENSP00000264938.3:p.Ser831Pro | |
| ENST00000514375.1:c.2464T>C (SLC9A3) | ENSP00000422983.1:p.Ser822Pro | |
| NM_001284351.1:c.2464T>C (SLC9A3) | NP_001271280.1:p.Ser822Pro | |
| NM_004174.2:c.2491T>C (SLC9A3) | NP_004165.2:p.Ser831Pro | |
| NR_125375.1:n.165-244A>G (SLC9A3-AS1) | ||
| XM_011514098.1:c.2497T>C (SLC9A3) | XP_011512400.1:p.Ser833Pro | |
| NM_001284351.2:c.2464T>C (SLC9A3) | NP_001271280.1:p.Ser822Pro | |
| NM_004174.3:c.2491T>C (SLC9A3) | NP_004165.2:p.Ser831Pro | |
| NM_001284351.3:c.2464T>C (SLC9A3) | NP_001271280.1:p.Ser822Pro | |
| NM_004174.4:c.2491T>C (SLC9A3) MANE Select | NP_004165.2:p.Ser831Pro |