HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65077428G>T , CM000677.2:g.65077428G>T | GRCh38 |
NC_000015.9:g.65369766G>T , CM000677.1:g.65369766G>T | GRCh37 |
NC_000015.8:g.63156819G>T | NCBI36 |
NG_021411.1:g.5613G>T , LRG_682:g.5613G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432196.5:c.613G>T MANE Select | ENSP00000388723.2:p.Ala205Ser | |
ENST00000432196.3:c.613G>T | ENSP00000388723.2:p.Ala205Ser | |
NM_001101362.2:c.613G>T , LRG_682t1:c.613G>T | NP_001094832.1:p.Ala205Ser | |
NM_001101362.3:c.613G>T MANE Select | NP_001094832.1:p.Ala205Ser |