HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688691C>G , CM000685.2:g.153688691C>G | GRCh38 |
NC_000023.10:g.152954146C>G , CM000685.1:g.152954146C>G | GRCh37 |
NC_000023.9:g.152607340C>G | NCBI36 |
NG_012016.1:g.5395C>G | |
NG_012016.2:g.5395C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.117C>G (SLC6A8) MANE Select | ENSP00000253122.5:p.Gly39= | |
ENST00000253122.9:c.117C>G (SLC6A8) | ENSP00000253122.5:p.Gly39= | |
ENST00000458354.5:c.-3+124G>C (PNCK) | ENSP00000401542.1:n.-3+124G>C | |
ENST00000480693.1:n.64+124G>C (PNCK) | ||
NM_001142805.1:c.117C>G (SLC6A8) | NP_001136277.1:p.Gly39= | |
NM_005629.3:c.117C>G (SLC6A8) | NP_005620.1:p.Gly39= | |
NM_005629.4:c.117C>G (SLC6A8) MANE Select | NP_005620.1:p.Gly39= | |
NM_001142805.2:c.117C>G (SLC6A8) | NP_001136277.1:p.Gly39= |