HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300878C>G , CM000667.2:g.128300878C>G | GRCh38 |
NC_000005.9:g.127636570C>G , CM000667.1:g.127636570C>G | GRCh37 |
NC_000005.8:g.127664469C>G | NCBI36 |
NG_008750.1:g.242166G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2889G>C | ||
ENST00000703785.1:n.2808G>C | ||
ENST00000262464.9:c.6105G>C MANE Select | ENSP00000262464.4:p.Leu2035Phe | |
ENST00000262464.8:c.6105G>C | ENSP00000262464.4:p.Leu2035Phe | |
ENST00000508053.5:c.6105G>C | ENSP00000424571.1:p.Leu2035Phe | |
ENST00000619499.4:c.6102G>C | ENSP00000482132.1:p.Leu2034Phe | |
NM_001999.3:c.6105G>C | NP_001990.2:p.Leu2035Phe | |
XM_017009228.2:c.5952G>C | XP_016864717.1:p.Leu1984Phe | |
NM_001999.4:c.6105G>C MANE Select | NP_001990.2:p.Leu2035Phe |