HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688627A>G , CM000685.2:g.153688627A>G | GRCh38 |
NC_000023.10:g.152954082A>G , CM000685.1:g.152954082A>G | GRCh37 |
NC_000023.9:g.152607276A>G | NCBI36 |
NG_012016.1:g.5331A>G | |
NG_012016.2:g.5331A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.53A>G (SLC6A8) MANE Select | ENSP00000253122.5:p.Lys18Arg | |
ENST00000253122.9:c.53A>G (SLC6A8) | ENSP00000253122.5:p.Lys18Arg | |
ENST00000458354.5:c.-3+188T>C (PNCK) | ENSP00000401542.1:n.-3+188T>C | |
ENST00000480693.1:n.64+188T>C (PNCK) | ||
NM_001142805.1:c.53A>G (SLC6A8) | NP_001136277.1:p.Lys18Arg | |
NM_005629.3:c.53A>G (SLC6A8) | NP_005620.1:p.Lys18Arg | |
NM_005629.4:c.53A>G (SLC6A8) MANE Select | NP_005620.1:p.Lys18Arg | |
NM_001142805.2:c.53A>G (SLC6A8) | NP_001136277.1:p.Lys18Arg |