HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688582A>T , CM000685.2:g.153688582A>T | GRCh38 |
NC_000023.10:g.152954037A>T , CM000685.1:g.152954037A>T | GRCh37 |
NC_000023.9:g.152607231A>T | NCBI36 |
NG_012016.1:g.5286A>T | |
NG_012016.2:g.5286A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.8A>T (SLC6A8) MANE Select | ENSP00000253122.5:p.Lys3Met | |
ENST00000253122.9:c.8A>T (SLC6A8) | ENSP00000253122.5:p.Lys3Met | |
ENST00000458354.5:c.-3+233T>A (PNCK) | ENSP00000401542.1:n.-3+233T>A | |
ENST00000480693.1:n.64+233T>A (PNCK) | ||
NM_001142805.1:c.8A>T (SLC6A8) | NP_001136277.1:p.Lys3Met | |
NM_005629.3:c.8A>T (SLC6A8) | NP_005620.1:p.Lys3Met | |
NM_005629.4:c.8A>T (SLC6A8) MANE Select | NP_005620.1:p.Lys3Met | |
NM_001142805.2:c.8A>T (SLC6A8) | NP_001136277.1:p.Lys3Met |