HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300859T>G , CM000667.2:g.128300859T>G | GRCh38 |
NC_000005.9:g.127636551T>G , CM000667.1:g.127636551T>G | GRCh37 |
NC_000005.8:g.127664450T>G | NCBI36 |
NG_008750.1:g.242185A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2908A>C | ||
ENST00000703785.1:n.2827A>C | ||
ENST00000262464.9:c.6124A>C MANE Select | ENSP00000262464.4:p.Ile2042Leu | |
ENST00000262464.8:c.6124A>C | ENSP00000262464.4:p.Ile2042Leu | |
ENST00000508053.5:c.6124A>C | ENSP00000424571.1:p.Ile2042Leu | |
ENST00000619499.4:c.6121A>C | ENSP00000482132.1:p.Ile2041Leu | |
NM_001999.3:c.6124A>C | NP_001990.2:p.Ile2042Leu | |
XM_017009228.2:c.5971A>C | XP_016864717.1:p.Ile1991Leu | |
NM_001999.4:c.6124A>C MANE Select | NP_001990.2:p.Ile2042Leu |