HGVS | Genome Assembly |
---|---|
NC_000003.12:g.13854782G>T , CM000665.2:g.13854782G>T | GRCh38 |
NC_000003.11:g.13896279G>T , CM000665.1:g.13896279G>T | GRCh37 |
NC_000003.10:g.13871280G>T | NCBI36 |
NG_008088.1:g.30340C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000285018.5:c.320C>A MANE Select | ENSP00000285018.4:p.Thr107Asn | |
ENST00000285018.4:c.320C>A | ENSP00000285018.4:p.Thr107Asn | |
NM_004625.3:c.320C>A | NP_004616.2:p.Thr107Asn | |
XM_011534090.1:c.119C>A | XP_011532392.1:p.Thr40Asn | |
XM_011534091.1:c.119C>A | XP_011532393.1:p.Thr40Asn | |
XM_011534091.2:c.119C>A | XP_011532393.1:p.Thr40Asn | |
NM_004625.4:c.320C>A MANE Select | NP_004616.2:p.Thr107Asn |