HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075593A>C , CM000679.2:g.8075593A>C | GRCh38 |
NC_000017.10:g.7978911A>C , CM000679.1:g.7978911A>C | GRCh37 |
NC_000017.9:g.7919636A>C | NCBI36 |
NG_007099.1:g.17111T>G | |
NG_007099.2:g.17124T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647874.1:c.1654+2T>G MANE Select | ENSP00000497784.1:n.1654+2T>G | |
ENST00000649809.1:c.718+2T>G | ENSP00000496845.1:n.718+2T>G | |
ENST00000319144.4:c.1654+2T>G | ENSP00000315167.4:n.1654+2T>G | |
ENST00000577351.5:n.479+582T>G | ||
NM_001139.2:c.1654+2T>G | NP_001130.1:n.1654+2T>G | |
NM_001139.3:c.1654+2T>G MANE Select | NP_001130.1:n.1654+2T>G |