HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7526780T>G , CM000681.2:g.7526780T>G | GRCh38 |
NC_000019.9:g.7591666T>G , CM000681.1:g.7591666T>G | GRCh37 |
NC_000019.8:g.7497666T>G | NCBI36 |
NG_015806.1:g.9171T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.425T>G MANE Select | ENSP00000264079.5:p.Val142Gly | |
ENST00000264079.10:c.425T>G | ENSP00000264079.5:p.Val142Gly | |
ENST00000394321.9:n.505T>G | ||
ENST00000596008.1:n.387T>G | ||
ENST00000598406.1:n.246T>G | ||
ENST00000601003.1:c.425T>G | ENSP00000469074.1:p.Val142Gly | |
NM_020533.2:c.425T>G | NP_065394.1:p.Val142Gly | |
NM_020533.3:c.425T>G MANE Select | NP_065394.1:p.Val142Gly |