HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762830T>C , CM000672.2:g.94762830T>C | GRCh38 |
NC_000010.10:g.96522587T>C , CM000672.1:g.96522587T>C | GRCh37 |
NC_000010.9:g.96512577T>C | NCBI36 |
NG_008384.2:g.5125T>C | |
NG_008384.3:g.5150T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.125T>C MANE Select | ENSP00000360372.3:p.Ile42Thr | |
ENST00000371321.7:c.125T>C | ENSP00000360372.3:p.Ile42Thr | |
ENST00000464755.1:c.932-12228T>C | ENSP00000483243.1:n.932-12228T>C | |
ENST00000480405.2:c.125T>C | ENSP00000483847.1:p.Ile42Thr | |
NM_000769.2:c.125T>C | NP_000760.1:p.Ile42Thr | |
NM_000769.4:c.125T>C MANE Select | NP_000760.1:p.Ile42Thr |