HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228668A>C , CM000673.2:g.112228668A>C | GRCh38 |
NC_000011.9:g.112099391A>C , CM000673.1:g.112099391A>C | GRCh37 |
NC_000011.8:g.111604601A>C | NCBI36 |
NG_008743.1:g.7304A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000280362.8:c.158A>C MANE Select | ENSP00000280362.3:p.Tyr53Ser | |
ENST00000280362.7:c.158A>C | ENSP00000280362.3:p.Tyr53Ser | |
ENST00000524931.1:c.-47A>C | ENSP00000434688.1:n.-47A>C | |
ENST00000525645.1:n.233A>C | ||
ENST00000525803.1:c.158A>C | ENSP00000431750.1:p.Tyr53Ser | |
ENST00000528679.5:c.158A>C | ENSP00000435895.1:p.Tyr53Ser | |
ENST00000531673.5:c.158A>C | ENSP00000433469.1:p.Tyr53Ser | |
NM_000317.2:c.158A>C | NP_000308.1:p.Tyr53Ser | |
NM_000317.3:c.158A>C MANE Select | NP_000308.1:p.Tyr53Ser |