HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789671T>A , CM000664.2:g.135789671T>A | GRCh38 |
NC_000002.11:g.136547241T>A , CM000664.1:g.136547241T>A | GRCh37 |
NC_000002.10:g.136263711T>A | NCBI36 |
NG_008104.2:g.70499A>T , LRG_338:g.70499A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.5463A>T MANE Select | ENSP00000264162.2:p.Pro1821= | |
ENST00000264162.6:c.5463A>T | ENSP00000264162.2:p.Pro1821= | |
NM_002299.2:c.5463A>T , LRG_338t1:c.5463A>T | NP_002290.2:p.Pro1821= | |
NM_002299.3:c.5463A>T | NP_002290.2:p.Pro1821= | |
NM_002299.4:c.5463A>T MANE Select | NP_002290.2:p.Pro1821= |