HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12790377A>G , CM000686.2:g.12790377A>G | GRCh38 |
NC_000024.9:g.14902310A>G , CM000686.1:g.14902310A>G | GRCh37 |
NC_000024.8:g.13411704A>G | NCBI36 |
NG_008311.1:g.94151A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.3562-30A>G | ENSP00000498372.1:n.3562-30A>G | |
ENST00000338981.7:c.3562-30A>G MANE Select | ENSP00000342812.3:n.3562-30A>G | |
ENST00000426564.6:n.3574-30A>G | ||
NM_004654.3:c.3562-30A>G | NP_004645.2:n.3562-30A>G | |
XM_011531469.1:c.3562-30A>G | XP_011529771.1:n.3562-30A>G | |
XM_011531470.1:c.3328-30A>G | XP_011529772.1:n.3328-30A>G | |
XM_017030078.2:c.3577-30A>G | XP_016885567.1:n.3577-30A>G | |
NM_004654.4:c.3562-30A>G MANE Select | NP_004645.2:n.3562-30A>G |