HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251746T>G , CM000681.2:g.2251746T>G | GRCh38 |
NC_000019.9:g.2251745T>G , CM000681.1:g.2251745T>G | GRCh37 |
NC_000019.8:g.2202745T>G | NCBI36 |
NG_012190.1:g.7633T>G | |
NG_032853.1:g.9678A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1472T>G MANE Select | ENSP00000221496.2:p.Val491Gly | |
ENST00000221496.4:c.1472T>G | ENSP00000221496.2:p.Val491Gly | |
NM_000479.3:c.1472T>G | NP_000470.2:p.Val491Gly | |
NM_000479.4:c.1472T>G | NP_000470.2:p.Val491Gly | |
NM_000479.5:c.1472T>G MANE Select | NP_000470.3:p.Val491Gly |