Linked Data
ClinVar Variation Id:
1474601
ClinVar RCV Id:
RCV001973501
dbSNP Id:
rs757493997
gnomAD v4:
5-474998-C-G
COSMIC:
COSM308570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.474998C>G , CM000667.2:g.474998C>G | GRCh38 |
| NC_000005.9:g.475113C>G , CM000667.1:g.475113C>G | GRCh37 |
| NC_000005.8:g.528113C>G | NCBI36 |
| NG_046804.1:g.100431G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2386G>C (SLC9A3) MANE Select | ENSP00000264938.3:p.Gly796Arg | |
| ENST00000644203.1:c.2251+563G>C (SLC9A3) | ENSP00000495903.1:n.2251+563G>C | |
| ENST00000264938.7:c.2386G>C (SLC9A3) | ENSP00000264938.3:p.Gly796Arg | |
| ENST00000514375.1:c.2359G>C (SLC9A3) | ENSP00000422983.1:p.Gly787Arg | |
| NM_001284351.1:c.2359G>C (SLC9A3) | NP_001271280.1:p.Gly787Arg | |
| NM_004174.2:c.2386G>C (SLC9A3) | NP_004165.2:p.Gly796Arg | |
| NR_125375.1:n.165-139C>G (SLC9A3-AS1) | ||
| XM_011514098.1:c.2392G>C (SLC9A3) | XP_011512400.1:p.Gly798Arg | |
| NM_001284351.2:c.2359G>C (SLC9A3) | NP_001271280.1:p.Gly787Arg | |
| NM_004174.3:c.2386G>C (SLC9A3) | NP_004165.2:p.Gly796Arg | |
| NM_001284351.3:c.2359G>C (SLC9A3) | NP_001271280.1:p.Gly787Arg | |
| NM_004174.4:c.2386G>C (SLC9A3) MANE Select | NP_004165.2:p.Gly796Arg |