HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72243789T>G , CM000673.2:g.72243789T>G | GRCh38 |
NC_000011.9:g.71954833T>G , CM000673.1:g.71954833T>G | GRCh37 |
NC_000011.8:g.71632481T>G | NCBI36 |
NG_008169.1:g.5388A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298231.5:c.216A>C MANE Select | ENSP00000298231.5:p.Ala72= | |
ENST00000544057.1:n.85+1791A>C | ||
NM_005169.3:c.216A>C | NP_005160.2:p.Ala72= | |
NM_005169.4:c.216A>C MANE Select | NP_005160.2:p.Ala72= |