Linked Data
ClinVar Variation Id:
2571803
ClinVar RCV Id:
RCV003313512
dbSNP Id:
rs2091435790
gnomAD v3:
X-153688581-A-G
gnomAD v4:
X-153688581-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688581A>G , CM000685.2:g.153688581A>G | GRCh38 |
| NC_000023.10:g.152954036A>G , CM000685.1:g.152954036A>G | GRCh37 |
| NC_000023.9:g.152607230A>G | NCBI36 |
| NG_012016.1:g.5285A>G | |
| NG_012016.2:g.5285A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.7A>G (SLC6A8) MANE Select | ENSP00000253122.5:p.Lys3Glu | |
| ENST00000253122.9:c.7A>G (SLC6A8) | ENSP00000253122.5:p.Lys3Glu | |
| ENST00000458354.5:c.-3+234T>C (PNCK) | ENSP00000401542.1:n.-3+234T>C | |
| ENST00000480693.1:n.64+234T>C (PNCK) | ||
| NM_001142805.1:c.7A>G (SLC6A8) | NP_001136277.1:p.Lys3Glu | |
| NM_005629.3:c.7A>G (SLC6A8) | NP_005620.1:p.Lys3Glu | |
| NM_005629.4:c.7A>G (SLC6A8) MANE Select | NP_005620.1:p.Lys3Glu | |
| NM_001142805.2:c.7A>G (SLC6A8) | NP_001136277.1:p.Lys3Glu |