HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688714T>G , CM000685.2:g.153688714T>G | GRCh38 |
NC_000023.10:g.152954169T>G , CM000685.1:g.152954169T>G | GRCh37 |
NC_000023.9:g.152607363T>G | NCBI36 |
NG_012016.1:g.5418T>G | |
NG_012016.2:g.5418T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.140T>G (SLC6A8) MANE Select | ENSP00000253122.5:p.Leu47Arg | |
ENST00000253122.9:c.140T>G (SLC6A8) | ENSP00000253122.5:p.Leu47Arg | |
ENST00000458354.5:c.-3+101A>C (PNCK) | ENSP00000401542.1:n.-3+101A>C | |
ENST00000480693.1:n.64+101A>C (PNCK) | ||
NM_001142805.1:c.140T>G (SLC6A8) | NP_001136277.1:p.Leu47Arg | |
NM_005629.3:c.140T>G (SLC6A8) | NP_005620.1:p.Leu47Arg | |
NM_005629.4:c.140T>G (SLC6A8) MANE Select | NP_005620.1:p.Leu47Arg | |
NM_001142805.2:c.140T>G (SLC6A8) | NP_001136277.1:p.Leu47Arg |