HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688515T>G , CM000685.2:g.153688515T>G | GRCh38 |
NC_000023.10:g.152953970T>G , CM000685.1:g.152953970T>G | GRCh37 |
NC_000023.9:g.152607164T>G | NCBI36 |
NG_012016.1:g.5219T>G | |
NG_012016.2:g.5219T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.-60T>G (SLC6A8) MANE Select | ENSP00000253122.5:n.-60T>G | |
ENST00000253122.9:c.-60T>G (SLC6A8) | ENSP00000253122.5:n.-60T>G | |
ENST00000458354.5:c.-3+300A>C (PNCK) | ENSP00000401542.1:n.-3+300A>C | |
ENST00000480693.1:n.64+300A>C (PNCK) | ||
NM_001142805.1:c.-60T>G (SLC6A8) | NP_001136277.1:n.-60T>G | |
NM_005629.3:c.-60T>G (SLC6A8) | NP_005620.1:n.-60T>G | |
NM_005629.4:c.-60T>G (SLC6A8) MANE Select | NP_005620.1:n.-60T>G | |
NM_001142805.2:c.-60T>G (SLC6A8) | NP_001136277.1:n.-60T>G |