HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775495A>T , CM000672.2:g.94775495A>T | GRCh38 |
NC_000010.10:g.96535252A>T , CM000672.1:g.96535252A>T | GRCh37 |
NC_000010.9:g.96525242A>T | NCBI36 |
NG_008384.2:g.17790A>T | |
NG_008384.3:g.17815A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.437A>T MANE Select | ENSP00000360372.3:p.Gln146Leu | |
ENST00000645461.1:n.1490A>T | ||
ENST00000371321.7:c.437A>T | ENSP00000360372.3:p.Gln146Leu | |
ENST00000464755.1:c.1200A>T | ENSP00000483243.1:n.1200A>T | |
ENST00000480405.2:c.437A>T | ENSP00000483847.1:p.Gln146Leu | |
NM_000769.2:c.437A>T | NP_000760.1:p.Gln146Leu | |
NM_000769.4:c.437A>T MANE Select | NP_000760.1:p.Gln146Leu |