HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667305C>A , CM000683.2:g.31667305C>A | GRCh38 |
NC_000021.8:g.33039618C>A , CM000683.1:g.33039618C>A | GRCh37 |
NC_000021.7:g.31961489C>A | NCBI36 |
NG_008689.1:g.12684C>A , LRG_652:g.12684C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.287C>A MANE Select | ENSP00000270142.7:p.Ala96Asp | |
ENST00000270142.10:c.287C>A | ENSP00000270142.6:p.Ala96Asp | |
ENST00000389995.4:c.230C>A | ENSP00000374645.4:p.Ala77Asp | |
ENST00000470944.1:n.1215C>A | ||
ENST00000476106.5:n.550C>A | ||
NM_000454.4:c.287C>A , LRG_652t1:c.287C>A | NP_000445.1:p.Ala96Asp | |
NM_000454.5:c.287C>A MANE Select | NP_000445.1:p.Ala96Asp |