Linked Data
ClinVar Variation Id:
235455
ClinVar RCV Id:
RCV000224381
dbSNP Id:
rs878853039
gnomAD v2:
X-152954297-T-C
gnomAD v4:
X-153688842-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688842T>C , CM000685.2:g.153688842T>C | GRCh38 |
| NC_000023.10:g.152954297T>C , CM000685.1:g.152954297T>C | GRCh37 |
| NC_000023.9:g.152607491T>C | NCBI36 |
| NG_012016.1:g.5546T>C | |
| NG_012016.2:g.5546T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.262+6T>C (SLC6A8) MANE Select | ENSP00000253122.5:n.262+6T>C | |
| ENST00000253122.9:c.262+6T>C (SLC6A8) | ENSP00000253122.5:n.262+6T>C | |
| ENST00000458354.5:c.-30A>G (PNCK) | ENSP00000401542.1:n.-30A>G | |
| ENST00000476466.1:n.114+6T>C (SLC6A8) | ||
| ENST00000480693.1:n.37A>G (PNCK) | ||
| NM_001142805.1:c.262+6T>C (SLC6A8) | NP_001136277.1:n.262+6T>C | |
| NM_005629.3:c.262+6T>C (SLC6A8) | NP_005620.1:n.262+6T>C | |
| NM_005629.4:c.262+6T>C (SLC6A8) MANE Select | NP_005620.1:n.262+6T>C | |
| NM_001142805.2:c.262+6T>C (SLC6A8) | NP_001136277.1:n.262+6T>C |