HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857662G>T , CM000686.2:g.12857662G>T | GRCh38 |
NC_000024.9:g.14969587G>T , CM000686.1:g.14969587G>T | GRCh37 |
NC_000024.8:g.13478981G>T | NCBI36 |
NG_008311.1:g.161428G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7530+1G>T | ENSP00000498372.1:n.7530+1G>T | |
ENST00000338981.7:c.7530+1G>T MANE Select | ENSP00000342812.3:n.7530+1G>T | |
ENST00000426564.6:n.7557+1G>T | ||
ENST00000453031.1:c.575+1G>T | ||
ENST00000471409.1:n.849+1G>T | ||
NM_004654.3:c.7530+1G>T | NP_004645.2:n.7530+1G>T | |
XM_011531469.1:c.7530+1G>T | XP_011529771.1:n.7530+1G>T | |
XM_011531470.1:c.7296+1G>T | XP_011529772.1:n.7296+1G>T | |
XM_017030078.2:c.7545+1G>T | XP_016885567.1:n.7545+1G>T | |
NM_004654.4:c.7530+1G>T MANE Select | NP_004645.2:n.7530+1G>T |