HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670375T>C , CM000666.2:g.68670375T>C | GRCh38 |
NC_000004.11:g.69536093T>C , CM000666.1:g.69536093T>C | GRCh37 |
NC_000004.10:g.69218688T>C | NCBI36 |
NG_052676.1:g.5402A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000338206.6:c.244A>G MANE Select | ENSP00000341045.5:p.Thr82Ala | |
ENST00000338206.5:c.244A>G | ENSP00000341045.5:p.Thr82Ala | |
ENST00000616841.4:c.244A>G | ENSP00000482004.1:p.Thr82Ala | |
NM_001076.3:c.244A>G | NP_001067.2:p.Thr82Ala | |
NM_001076.4:c.244A>G MANE Select | NP_001067.2:p.Thr82Ala |