HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52027973T>C , CM000666.2:g.52027973T>C | GRCh38 |
NC_000004.11:g.52894139T>C , CM000666.1:g.52894139T>C | GRCh37 |
NC_000004.10:g.52588896T>C | NCBI36 |
NG_008891.1:g.15347A>G , LRG_204:g.15347A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.748A>G MANE Select | ENSP00000370839.6:p.Lys250Glu | |
ENST00000381431.9:c.748A>G | ENSP00000370839.5:p.Lys250Glu | |
NM_000232.4:c.748A>G , LRG_204t1:c.748A>G | NP_000223.1:p.Lys250Glu | |
XM_006714049.2:c.451A>G | XP_006714112.1:p.Lys151Glu | |
XM_011534403.1:c.538A>G | XP_011532705.1:p.Lys180Glu | |
XM_011534404.1:c.451A>G | XP_011532706.1:p.Lys151Glu | |
NM_000232.5:c.748A>G MANE Select | NP_000223.1:p.Lys250Glu |