HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94422982C>T , CM000669.2:g.94422982C>T | GRCh38 |
NC_000007.13:g.94052294C>T , CM000669.1:g.94052294C>T | GRCh37 |
NC_000007.12:g.93890230C>T | NCBI36 |
NG_007405.1:g.33422C>T , LRG_2:g.33422C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.2429C>T MANE Select | ENSP00000297268.6:p.Pro810Leu | |
ENST00000297268.10:c.2429C>T | ENSP00000297268.6:p.Pro810Leu | |
ENST00000481570.5:n.512C>T | ||
ENST00000497316.5:n.826C>T | ||
ENST00000620463.1:c.2423C>T | ENSP00000477719.1:p.Pro808Leu | |
NM_000089.3:c.2429C>T , LRG_2t1:c.2429C>T | NP_000080.2:p.Pro810Leu | |
NM_000089.4:c.2429C>T MANE Select | NP_000080.2:p.Pro810Leu |