HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884844G>C , CM000680.2:g.13884844G>C | GRCh38 |
NC_000018.9:g.13884843G>C , CM000680.1:g.13884843G>C | GRCh37 |
NC_000018.8:g.13874843G>C | NCBI36 |
NG_011819.1:g.35693C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327606.4:c.675C>G MANE Select | ENSP00000333821.2:p.Leu225= | |
ENST00000327606.3:c.675C>G | ENSP00000333821.2:p.Leu225= | |
NM_000529.2:c.675C>G MANE Select | NP_000520.1:p.Leu225= | |
NM_001291911.1:c.675C>G | NP_001278840.1:p.Leu225= | |
XM_017025781.1:c.675C>G | XP_016881270.1:p.Leu225= |