HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128304971T>G , CM000667.2:g.128304971T>G | GRCh38 |
NC_000005.9:g.127640663T>G , CM000667.1:g.127640663T>G | GRCh37 |
NC_000005.8:g.127668562T>G | NCBI36 |
NG_008750.1:g.238073A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2570A>C | ||
ENST00000703785.1:n.2489A>C | ||
ENST00000262464.9:c.5786A>C MANE Select | ENSP00000262464.4:p.Gln1929Pro | |
ENST00000262464.8:c.5786A>C | ENSP00000262464.4:p.Gln1929Pro | |
ENST00000508053.5:c.5786A>C | ENSP00000424571.1:p.Gln1929Pro | |
ENST00000619499.4:c.5783A>C | ENSP00000482132.1:p.Gln1928Pro | |
NM_001999.3:c.5786A>C | NP_001990.2:p.Gln1929Pro | |
XM_017009228.2:c.5633A>C | XP_016864717.1:p.Gln1878Pro | |
NM_001999.4:c.5786A>C MANE Select | NP_001990.2:p.Gln1929Pro |