HGVS | Genome Assembly |
---|---|
NC_000019.10:g.53977896T>G , CM000681.2:g.53977896T>G | GRCh38 |
NC_000019.9:g.54481150T>G , CM000681.1:g.54481150T>G | GRCh37 |
NC_000019.8:g.59172962T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000270458.4:c.284-250T>G MANE Select | ENSP00000270458.3:n.284-250T>G | |
ENST00000270458.2:c.284-250T>G | ENSP00000270458.2:n.284-250T>G | |
NM_031895.5:c.284-250T>G | NP_114101.4:n.284-250T>G | |
NM_031895.6:c.284-250T>G MANE Select | NP_114101.4:n.284-250T>G |