HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357331G>C , CM000667.2:g.128357331G>C | GRCh38 |
NC_000005.9:g.127693023G>C , CM000667.1:g.127693023G>C | GRCh37 |
NC_000005.8:g.127720922G>C | NCBI36 |
NG_008750.1:g.185713C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.2619C>G MANE Select | ENSP00000262464.4:p.Phe873Leu | |
ENST00000262464.8:c.2619C>G | ENSP00000262464.4:p.Phe873Leu | |
ENST00000508053.5:c.2619C>G | ENSP00000424571.1:p.Phe873Leu | |
ENST00000508989.5:c.2520C>G | ENSP00000425596.1:p.Phe840Leu | |
ENST00000619499.4:c.2616C>G | ENSP00000482132.1:p.Phe872Leu | |
NM_001999.3:c.2619C>G | NP_001990.2:p.Phe873Leu | |
XM_017009228.2:c.2466C>G | XP_016864717.1:p.Phe822Leu | |
NM_001999.4:c.2619C>G MANE Select | NP_001990.2:p.Phe873Leu |