HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688653C>T , CM000685.2:g.153688653C>T | GRCh38 |
NC_000023.10:g.152954108C>T , CM000685.1:g.152954108C>T | GRCh37 |
NC_000023.9:g.152607302C>T | NCBI36 |
NG_012016.1:g.5357C>T | |
NG_012016.2:g.5357C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.79C>T (SLC6A8) MANE Select | ENSP00000253122.5:p.Pro27Ser | |
ENST00000253122.9:c.79C>T (SLC6A8) | ENSP00000253122.5:p.Pro27Ser | |
ENST00000458354.5:c.-3+162G>A (PNCK) | ENSP00000401542.1:n.-3+162G>A | |
ENST00000480693.1:n.64+162G>A (PNCK) | ||
NM_001142805.1:c.79C>T (SLC6A8) | NP_001136277.1:p.Pro27Ser | |
NM_005629.3:c.79C>T (SLC6A8) | NP_005620.1:p.Pro27Ser | |
NM_005629.4:c.79C>T (SLC6A8) MANE Select | NP_005620.1:p.Pro27Ser | |
NM_001142805.2:c.79C>T (SLC6A8) | NP_001136277.1:p.Pro27Ser |