HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688567C>A , CM000685.2:g.153688567C>A | GRCh38 |
NC_000023.10:g.152954022C>A , CM000685.1:g.152954022C>A | GRCh37 |
NC_000023.9:g.152607216C>A | NCBI36 |
NG_012016.1:g.5271C>A | |
NG_012016.2:g.5271C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.-8C>A (SLC6A8) MANE Select | ENSP00000253122.5:n.-8C>A | |
ENST00000253122.9:c.-8C>A (SLC6A8) | ENSP00000253122.5:n.-8C>A | |
ENST00000458354.5:c.-3+248G>T (PNCK) | ENSP00000401542.1:n.-3+248G>T | |
ENST00000480693.1:n.64+248G>T (PNCK) | ||
NM_001142805.1:c.-8C>A (SLC6A8) | NP_001136277.1:n.-8C>A | |
NM_005629.3:c.-8C>A (SLC6A8) | NP_005620.1:n.-8C>A | |
NM_005629.4:c.-8C>A (SLC6A8) MANE Select | NP_005620.1:n.-8C>A | |
NM_001142805.2:c.-8C>A (SLC6A8) | NP_001136277.1:n.-8C>A |