Linked Data
ClinVar Variation Id:
2736730
ClinVar RCV Id:
RCV003513642
dbSNP Id:
rs782695399
ExAC:
X:152954299 C / T
gnomAD v2:
X-152954299-C-T
gnomAD v3:
X-153688844-C-T
gnomAD v4:
X-153688844-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688844C>T , CM000685.2:g.153688844C>T | GRCh38 |
| NC_000023.10:g.152954299C>T , CM000685.1:g.152954299C>T | GRCh37 |
| NC_000023.9:g.152607493C>T | NCBI36 |
| NG_012016.1:g.5548C>T | |
| NG_012016.2:g.5548C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.262+8C>T (SLC6A8) MANE Select | ENSP00000253122.5:n.262+8C>T | |
| ENST00000253122.9:c.262+8C>T (SLC6A8) | ENSP00000253122.5:n.262+8C>T | |
| ENST00000458354.5:c.-32G>A (PNCK) | ENSP00000401542.1:n.-32G>A | |
| ENST00000476466.1:n.114+8C>T (SLC6A8) | ||
| ENST00000480693.1:n.35G>A (PNCK) | ||
| NM_001142805.1:c.262+8C>T (SLC6A8) | NP_001136277.1:n.262+8C>T | |
| NM_005629.3:c.262+8C>T (SLC6A8) | NP_005620.1:n.262+8C>T | |
| NM_005629.4:c.262+8C>T (SLC6A8) MANE Select | NP_005620.1:n.262+8C>T | |
| NM_001142805.2:c.262+8C>T (SLC6A8) | NP_001136277.1:n.262+8C>T |