HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857661G>A , CM000686.2:g.12857661G>A | GRCh38 |
NC_000024.9:g.14969586G>A , CM000686.1:g.14969586G>A | GRCh37 |
NC_000024.8:g.13478980G>A | NCBI36 |
NG_008311.1:g.161427G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7530G>A | ENSP00000498372.1:p.Gln2510= | |
ENST00000338981.7:c.7530G>A MANE Select | ENSP00000342812.3:p.Gln2510= | |
ENST00000426564.6:n.7557G>A | ||
ENST00000453031.1:c.575G>A | ||
ENST00000471409.1:n.849G>A | ||
NM_004654.3:c.7530G>A | NP_004645.2:p.Gln2510= | |
XM_011531469.1:c.7530G>A | XP_011529771.1:p.Gln2510= | |
XM_011531470.1:c.7296G>A | XP_011529772.1:p.Gln2432= | |
XM_017030078.2:c.7545G>A | XP_016885567.1:p.Gln2515= | |
NM_004654.4:c.7530G>A MANE Select | NP_004645.2:p.Gln2510= |