Linked Data
ClinVar Variation Id:
1304267
dbSNP Id:
rs1185738875
gnomAD v2:
X-152954156-C-T
gnomAD v3:
X-153688701-C-T
gnomAD v4:
X-153688701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688701C>T , CM000685.2:g.153688701C>T | GRCh38 |
| NC_000023.10:g.152954156C>T , CM000685.1:g.152954156C>T | GRCh37 |
| NC_000023.9:g.152607350C>T | NCBI36 |
| NG_012016.1:g.5405C>T | |
| NG_012016.2:g.5405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.127C>T (SLC6A8) MANE Select | ENSP00000253122.5:p.Pro43Ser | |
| ENST00000253122.9:c.127C>T (SLC6A8) | ENSP00000253122.5:p.Pro43Ser | |
| ENST00000458354.5:c.-3+114G>A (PNCK) | ENSP00000401542.1:n.-3+114G>A | |
| ENST00000480693.1:n.64+114G>A (PNCK) | ||
| NM_001142805.1:c.127C>T (SLC6A8) | NP_001136277.1:p.Pro43Ser | |
| NM_005629.3:c.127C>T (SLC6A8) | NP_005620.1:p.Pro43Ser | |
| NM_005629.4:c.127C>T (SLC6A8) MANE Select | NP_005620.1:p.Pro43Ser | |
| NM_001142805.2:c.127C>T (SLC6A8) | NP_001136277.1:p.Pro43Ser |