HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12778017A>T , CM000686.2:g.12778017A>T | GRCh38 |
NC_000024.9:g.14889951A>T , CM000686.1:g.14889951A>T | GRCh37 |
NC_000024.8:g.13399345A>T | NCBI36 |
NG_008311.1:g.81792A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.2640-2A>T | ENSP00000498372.1:n.2640-2A>T | |
ENST00000338981.7:c.2640-2A>T MANE Select | ENSP00000342812.3:n.2640-2A>T | |
ENST00000426564.6:n.2652-2A>T | ||
NM_004654.3:c.2640-2A>T | NP_004645.2:n.2640-2A>T | |
XM_011531469.1:c.2640-2A>T | XP_011529771.1:n.2640-2A>T | |
XM_011531470.1:c.2406-2A>T | XP_011529772.1:n.2406-2A>T | |
XM_017030078.2:c.2655-2A>T | XP_016885567.1:n.2655-2A>T | |
NM_004654.4:c.2640-2A>T MANE Select | NP_004645.2:n.2640-2A>T |