HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688745C= , CM000685.2:g.153688745C= | GRCh38 |
NC_000023.10:g.152954200C= , CM000685.1:g.152954200C= | GRCh37 |
NC_000023.9:g.152607394C= | NCBI36 |
NG_012016.1:g.5449C= | |
NG_012016.2:g.5449C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253122.10:c.171C= (SLC6A8) MANE Select | ENSP00000253122.5:p.Arg57= | |
ENST00000253122.9:c.171C= (SLC6A8) | ENSP00000253122.5:p.Arg57= | |
ENST00000458354.5:c.-3+70G= (PNCK) | ENSP00000401542.1:n.-3+70G= | |
ENST00000476466.1:n.23C= (SLC6A8) | ||
ENST00000480693.1:n.64+70G= (PNCK) | ||
NM_001142805.1:c.171C= (SLC6A8) | NP_001136277.1:p.Arg57= | |
NM_005629.3:c.171C= (SLC6A8) | NP_005620.1:p.Arg57= | |
NM_005629.4:c.171C= (SLC6A8) MANE Select | NP_005620.1:p.Arg57= | |
NM_001142805.2:c.171C= (SLC6A8) | NP_001136277.1:p.Arg57= |