HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65077795C>A , CM000677.2:g.65077795C>A | GRCh38 |
NC_000015.9:g.65370133C>A , CM000677.1:g.65370133C>A | GRCh37 |
NC_000015.8:g.63157186C>A | NCBI36 |
NG_021411.1:g.5980C>A , LRG_682:g.5980C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432196.5:c.980C>A MANE Select | ENSP00000388723.2:p.Thr327Asn | |
ENST00000432196.3:c.980C>A | ENSP00000388723.2:p.Thr327Asn | |
NM_001101362.2:c.980C>A , LRG_682t1:c.980C>A | NP_001094832.1:p.Thr327Asn | |
NM_001101362.3:c.980C>A MANE Select | NP_001094832.1:p.Thr327Asn |