Linked Data
dbSNP Id:
rs2148358337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688596A>C , CM000685.2:g.153688596A>C | GRCh38 |
| NC_000023.10:g.152954051A>C , CM000685.1:g.152954051A>C | GRCh37 |
| NC_000023.9:g.152607245A>C | NCBI36 |
| NG_012016.1:g.5300A>C | |
| NG_012016.2:g.5300A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.22A>C (SLC6A8) MANE Select | ENSP00000253122.5:p.Asn8His | |
| ENST00000253122.9:c.22A>C (SLC6A8) | ENSP00000253122.5:p.Asn8His | |
| ENST00000458354.5:c.-3+219T>G (PNCK) | ENSP00000401542.1:n.-3+219T>G | |
| ENST00000480693.1:n.64+219T>G (PNCK) | ||
| NM_001142805.1:c.22A>C (SLC6A8) | NP_001136277.1:p.Asn8His | |
| NM_005629.3:c.22A>C (SLC6A8) | NP_005620.1:p.Asn8His | |
| NM_005629.4:c.22A>C (SLC6A8) MANE Select | NP_005620.1:p.Asn8His | |
| NM_001142805.2:c.22A>C (SLC6A8) | NP_001136277.1:p.Asn8His |