HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312702A>C , CM000673.2:g.118312702A>C | GRCh38 |
NC_000011.9:g.118183417A>C , CM000673.1:g.118183417A>C | GRCh37 |
NC_000011.8:g.117688627A>C | NCBI36 |
NG_007383.1:g.13123A>C , LRG_38:g.13123A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.188A>C MANE Select | ENSP00000354566.4:p.Asp63Ala | |
ENST00000361763.8:c.188A>C | ENSP00000354566.4:p.Asp63Ala | |
ENST00000526146.5:n.734A>C | ||
ENST00000528435.5:n.741A>C | ||
ENST00000528600.1:c.170A>C | ENSP00000433975.1:p.Asp57Ala | |
ENST00000529713.5:n.294A>C | ||
ENST00000531913.1:n.559A>C | ||
NM_000733.3:c.188A>C , LRG_38t1:c.188A>C | NP_000724.1:p.Asp63Ala | |
NM_000733.4:c.188A>C MANE Select | NP_000724.1:p.Asp63Ala |