HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169136A>G , CM000683.2:g.43169136A>G | GRCh38 |
NG_009823.1:g.5106A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.37A>G MANE Select | ENSP00000291554.2:p.Thr13Ala | |
ENST00000482775.1:n.50A>G | ||
NM_000394.3:c.37A>G | NP_000385.1:p.Thr13Ala | |
XR_001755073.1:n.647+1901T>C | ||
NM_000394.4:c.37A>G MANE Select | NP_000385.1:p.Thr13Ala |