Linked Data
ClinVar Variation Id:
1674253
ClinVar RCV Id:
RCV002206536
dbSNP Id:
rs373192316
ExAC:
5:475264 C / T
gnomAD v2:
5-475264-C-T
gnomAD v3:
5-475149-C-T
gnomAD v4:
5-475149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.475149C>T , CM000667.2:g.475149C>T | GRCh38 |
| NC_000005.9:g.475264C>T , CM000667.1:g.475264C>T | GRCh37 |
| NC_000005.8:g.528264C>T | NCBI36 |
| NG_046804.1:g.100280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2252-17G>A (SLC9A3) MANE Select | ENSP00000264938.3:n.2252-17G>A | |
| ENST00000644203.1:c.2251+412G>A (SLC9A3) | ENSP00000495903.1:n.2251+412G>A | |
| ENST00000264938.7:c.2252-17G>A (SLC9A3) | ENSP00000264938.3:n.2252-17G>A | |
| ENST00000514375.1:c.2225-17G>A (SLC9A3) | ENSP00000422983.1:n.2225-17G>A | |
| NM_001284351.1:c.2225-17G>A (SLC9A3) | NP_001271280.1:n.2225-17G>A | |
| NM_004174.2:c.2252-17G>A (SLC9A3) | NP_004165.2:n.2252-17G>A | |
| NR_125375.1:n.177C>T (SLC9A3-AS1) | ||
| XM_011514098.1:c.2258-17G>A (SLC9A3) | XP_011512400.1:n.2258-17G>A | |
| NM_001284351.2:c.2225-17G>A (SLC9A3) | NP_001271280.1:n.2225-17G>A | |
| NM_004174.3:c.2252-17G>A (SLC9A3) | NP_004165.2:n.2252-17G>A | |
| NM_001284351.3:c.2225-17G>A (SLC9A3) | NP_001271280.1:n.2225-17G>A | |
| NM_004174.4:c.2252-17G>A (SLC9A3) MANE Select | NP_004165.2:n.2252-17G>A |