HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945834G>T , CM000671.2:g.128945834G>T | GRCh38 |
NC_000009.11:g.131708113G>T , CM000671.1:g.131708113G>T | GRCh37 |
NC_000009.10:g.130747934G>T | NCBI36 |
NG_017009.1:g.6900C>A , LRG_744:g.6900C>A | |
NG_033111.1:g.3142G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.1470C>A MANE Select | ENSP00000361667.3:p.Ile490= | |
ENST00000372586.3:c.1470C>A | ENSP00000361667.3:p.Ile490= | |
ENST00000482796.1:c.39-3355G>T | ENSP00000417556.2:n.39-3355G>T | |
NM_014908.3:c.1470C>A , LRG_744t1:c.1470C>A | NP_055723.1:p.Ile490= | |
NM_014908.4:c.1470C>A MANE Select | NP_055723.1:p.Ile490= |