HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17027744A>C , CM000663.2:g.17027744A>C | GRCh38 |
NC_000001.10:g.17354239A>C , CM000663.1:g.17354239A>C | GRCh37 |
NC_000001.9:g.17226826A>C | NCBI36 |
NG_012340.1:g.31427T>G , LRG_316:g.31427T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.369+5T>G | ENSP00000481376.2:n.369+5T>G | |
ENST00000491274.6:c.498+5T>G | ENSP00000480482.2:n.498+5T>G | |
ENST00000375499.8:c.540+5T>G MANE Select | ENSP00000364649.3:n.540+5T>G | |
ENST00000375499.7:c.540+5T>G | ENSP00000364649.3:n.540+5T>G | |
ENST00000475506.1:n.462T>G | ||
ENST00000485515.5:n.474+5T>G | ||
ENST00000491274.5:c.498+5T>G | ENSP00000480482.1:n.498+5T>G | |
NM_003000.2:c.540+5T>G , LRG_316t1:c.540+5T>G | NP_002991.2:n.540+5T>G | |
NM_003000.3:c.540+5T>G MANE Select | NP_002991.2:n.540+5T>G |