HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001280T>A , CM000683.2:g.46001280T>A | GRCh38 |
NC_000021.8:g.47421194T>A , CM000683.1:g.47421194T>A | GRCh37 |
NC_000021.7:g.46245622T>A | NCBI36 |
NG_008674.1:g.24532T>A , LRG_475:g.24532T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463060.6:n.249T>A | ||
ENST00000361866.8:c.1850T>A MANE Select | ENSP00000355180.3:p.Leu617Gln | |
ENST00000361866.7:c.1850T>A | ENSP00000355180.3:p.Leu617Gln | |
ENST00000463060.5:n.249T>A | ||
ENST00000498614.5:n.84T>A | ||
ENST00000612273.1:c.1844T>A | ENSP00000483630.1:p.Leu615Gln | |
NM_001848.2:c.1850T>A , LRG_475t1:c.1850T>A | NP_001839.2:p.Leu617Gln | |
NM_001848.3:c.1850T>A MANE Select | NP_001839.2:p.Leu617Gln |