Linked Data
ClinVar Variation Id:
1638728
ClinVar RCV Id:
RCV002126396
dbSNP Id:
rs201352986
ExAC:
5:475265 G / C
gnomAD v2:
5-475265-G-C
gnomAD v3:
5-475150-G-C
gnomAD v4:
5-475150-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.475150G>C , CM000667.2:g.475150G>C | GRCh38 |
| NC_000005.9:g.475265G>C , CM000667.1:g.475265G>C | GRCh37 |
| NC_000005.8:g.528265G>C | NCBI36 |
| NG_046804.1:g.100279C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2252-18C>G (SLC9A3) MANE Select | ENSP00000264938.3:n.2252-18C>G | |
| ENST00000644203.1:c.2251+411C>G (SLC9A3) | ENSP00000495903.1:n.2251+411C>G | |
| ENST00000264938.7:c.2252-18C>G (SLC9A3) | ENSP00000264938.3:n.2252-18C>G | |
| ENST00000514375.1:c.2225-18C>G (SLC9A3) | ENSP00000422983.1:n.2225-18C>G | |
| NM_001284351.1:c.2225-18C>G (SLC9A3) | NP_001271280.1:n.2225-18C>G | |
| NM_004174.2:c.2252-18C>G (SLC9A3) | NP_004165.2:n.2252-18C>G | |
| NR_125375.1:n.178G>C (SLC9A3-AS1) | ||
| XM_011514098.1:c.2258-18C>G (SLC9A3) | XP_011512400.1:n.2258-18C>G | |
| NM_001284351.2:c.2225-18C>G (SLC9A3) | NP_001271280.1:n.2225-18C>G | |
| NM_004174.3:c.2252-18C>G (SLC9A3) | NP_004165.2:n.2252-18C>G | |
| NM_001284351.3:c.2225-18C>G (SLC9A3) | NP_001271280.1:n.2225-18C>G | |
| NM_004174.4:c.2252-18C>G (SLC9A3) MANE Select | NP_004165.2:n.2252-18C>G |