HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128305057A>C , CM000667.2:g.128305057A>C | GRCh38 |
NC_000005.9:g.127640749A>C , CM000667.1:g.127640749A>C | GRCh37 |
NC_000005.8:g.127668648A>C | NCBI36 |
NG_008750.1:g.237987T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2484T>G | ||
ENST00000703785.1:n.2403T>G | ||
ENST00000262464.9:c.5700T>G MANE Select | ENSP00000262464.4:p.Pro1900= | |
ENST00000262464.8:c.5700T>G | ENSP00000262464.4:p.Pro1900= | |
ENST00000508053.5:c.5700T>G | ENSP00000424571.1:p.Pro1900= | |
ENST00000619499.4:c.5697T>G | ENSP00000482132.1:p.Pro1899= | |
NM_001999.3:c.5700T>G | NP_001990.2:p.Pro1900= | |
XM_017009228.2:c.5547T>G | XP_016864717.1:p.Pro1849= | |
NM_001999.4:c.5700T>G MANE Select | NP_001990.2:p.Pro1900= |