HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52027982dup , CM000666.2:g.52027982dup | GRCh38 |
NC_000004.11:g.52894148dup , CM000666.1:g.52894148dup | GRCh37 |
NC_000004.10:g.52588905dup | NCBI36 |
NG_008891.1:g.15338dup , LRG_204:g.15338dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.739dup MANE Select | ENSP00000370839.6:p.Met247AsnfsTer? | |
ENST00000381431.9:c.739dup | ENSP00000370839.5:p.Met247AsnfsTer? | |
NM_000232.4:c.739dup , LRG_204t1:c.739dup | NP_000223.1:p.Met247AsnfsTer? | |
XM_006714049.2:c.442dup | XP_006714112.1:p.Met148AsnfsTer? | |
XM_011534403.1:c.529dup | XP_011532705.1:p.Met177AsnfsTer? | |
XM_011534404.1:c.442dup | XP_011532706.1:p.Met148AsnfsTer? | |
NM_000232.5:c.739dup MANE Select | NP_000223.1:p.Met247AsnfsTer? |