HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153688689G>C , CM000685.2:g.153688689G>C | GRCh38 |
NC_000023.10:g.152954144G>C , CM000685.1:g.152954144G>C | GRCh37 |
NC_000023.9:g.152607338G>C | NCBI36 |
NG_012016.1:g.5393G>C | |
NG_012016.2:g.5393G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.115G>C (SLC6A8) MANE Select | ENSP00000253122.5:p.Gly39Arg | |
ENST00000253122.9:c.115G>C (SLC6A8) | ENSP00000253122.5:p.Gly39Arg | |
ENST00000458354.5:c.-3+126C>G (PNCK) | ENSP00000401542.1:n.-3+126C>G | |
ENST00000480693.1:n.64+126C>G (PNCK) | ||
NM_001142805.1:c.115G>C (SLC6A8) | NP_001136277.1:p.Gly39Arg | |
NM_005629.3:c.115G>C (SLC6A8) | NP_005620.1:p.Gly39Arg | |
NM_005629.4:c.115G>C (SLC6A8) MANE Select | NP_005620.1:p.Gly39Arg | |
NM_001142805.2:c.115G>C (SLC6A8) | NP_001136277.1:p.Gly39Arg |