HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909368T>C , CM000679.2:g.42909368T>C | GRCh38 |
NC_000017.10:g.41061385T>C , CM000679.1:g.41061385T>C | GRCh37 |
NC_000017.9:g.38314911T>C | NCBI36 |
NG_011808.1:g.13571T>C , LRG_147:g.13571T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253801.7:c.512T>C MANE Select | ENSP00000253801.1:p.Ile171Thr | |
ENST00000253801.6:c.512T>C | ENSP00000253801.1:p.Ile171Thr | |
ENST00000585489.1:c.447-1547T>C | ENSP00000466202.1:n.447-1547T>C | |
ENST00000592383.5:c.435T>C | ENSP00000465958.1:p.Asn145= | |
NM_000151.3:c.512T>C | NP_000142.2:p.Ile171Thr | |
NM_001270397.1:c.435T>C | NP_001257326.1:p.Asn145= | |
NM_000151.4:c.512T>C MANE Select | NP_000142.2:p.Ile171Thr | |
NM_001270397.2:c.435T>C | NP_001257326.1:p.Asn145= |