HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028804C>A , CM000666.2:g.52028804C>A | GRCh38 |
NC_000004.11:g.52894970C>A , CM000666.1:g.52894970C>A | GRCh37 |
NC_000004.10:g.52589727C>A | NCBI36 |
NG_008891.1:g.14516G>T , LRG_204:g.14516G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.547G>T MANE Select | ENSP00000370839.6:p.Asp183Tyr | |
ENST00000381431.9:c.547G>T | ENSP00000370839.5:p.Asp183Tyr | |
ENST00000506357.5:c.630G>T | ||
NM_000232.4:c.547G>T , LRG_204t1:c.547G>T | NP_000223.1:p.Asp183Tyr | |
XM_006714049.2:c.250G>T | XP_006714112.1:p.Asp84Tyr | |
XM_011534403.1:c.337G>T | XP_011532705.1:p.Asp113Tyr | |
XM_011534404.1:c.250G>T | XP_011532706.1:p.Asp84Tyr | |
NM_000232.5:c.547G>T MANE Select | NP_000223.1:p.Asp183Tyr |