HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218882259A>T , CM000664.2:g.218882259A>T | GRCh38 |
NC_000002.11:g.219746981A>T , CM000664.1:g.219746981A>T | GRCh37 |
NC_000002.10:g.219455225A>T | NCBI36 |
NG_012179.1:g.6727A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.212A>T MANE Select | ENSP00000258411.3:p.Gln71Leu | |
ENST00000258411.7:c.212A>T | ENSP00000258411.3:p.Gln71Leu | |
ENST00000458582.1:c.99A>T | ||
NM_025216.2:c.212A>T | NP_079492.2:p.Gln71Leu | |
XM_011511928.1:c.161A>T | XP_011510230.1:p.Gln54Leu | |
XM_011511929.1:c.116A>T | XP_011510231.1:p.Gln39Leu | |
XM_011511930.1:c.212A>T | XP_011510232.1:p.Gln71Leu | |
XM_011511929.2:c.116A>T | XP_011510231.1:p.Gln39Leu | |
NM_025216.3:c.212A>T MANE Select | NP_079492.2:p.Gln71Leu |