HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780568A>T , CM000672.2:g.94780568A>T | GRCh38 |
NC_000010.10:g.96540325A>T , CM000672.1:g.96540325A>T | GRCh37 |
NC_000010.9:g.96530315A>T | NCBI36 |
NG_008384.2:g.22863A>T | |
NG_008384.3:g.22888A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.551A>T MANE Select | ENSP00000360372.3:p.Gln184Leu | |
ENST00000645461.1:n.1604A>T | ||
ENST00000371321.7:c.551A>T | ENSP00000360372.3:p.Gln184Leu | |
ENST00000464755.1:c.1314A>T | ENSP00000483243.1:n.1314A>T | |
NM_000769.2:c.551A>T | NP_000760.1:p.Gln184Leu | |
NM_000769.4:c.551A>T MANE Select | NP_000760.1:p.Gln184Leu |