HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107779680G>C , CM000669.2:g.107779680G>C | GRCh38 |
NC_000007.13:g.107420125G>C , CM000669.1:g.107420125G>C | GRCh37 |
NC_000007.12:g.107207361G>C | NCBI36 |
NG_008046.1:g.28554C>G , LRG_683:g.28554C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.1395C>G MANE Select | ENSP00000345873.5:p.Asp465Glu | |
ENST00000340010.9:c.1395C>G | ENSP00000345873.5:p.Asp465Glu | |
ENST00000379083.7:c.*1186C>G | ENSP00000368375.3:n.*1186C>G | |
NM_000111.2:c.1395C>G , LRG_683t1:c.1395C>G | NP_000102.1:p.Asp465Glu | |
XM_011515867.1:c.1395C>G | XP_011514169.1:p.Asp465Glu | |
NM_000111.3:c.1395C>G MANE Select | NP_000102.1:p.Asp465Glu |