HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780490C>G , CM000679.2:g.6780490C>G | GRCh38 |
NC_000017.10:g.6683809C>G , CM000679.1:g.6683809C>G | GRCh37 |
NC_000017.9:g.6624533C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.622C>G MANE Select | ENSP00000321386.4:p.Leu208Val | |
ENST00000321535.4:c.622C>G | ENSP00000321386.4:p.Leu208Val | |
NM_153230.2:c.622C>G | NP_694962.1:p.Leu208Val | |
XM_011523697.1:c.622C>G | XP_011521999.1:p.Leu208Val | |
XR_243544.3:n.800C>G | ||
NM_153230.3:c.622C>G MANE Select | NP_694962.1:p.Leu208Val |