HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12777896C= , CM000686.2:g.12777896C= | GRCh38 |
NC_000024.9:g.14889830C= , CM000686.1:g.14889830C= | GRCh37 |
NC_000024.8:g.13399224C= | NCBI36 |
NG_008311.1:g.81671C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.2640-123C= | ENSP00000498372.1:n.2640-123C= | |
ENST00000338981.7:c.2640-123C= MANE Select | ENSP00000342812.3:n.2640-123C= | |
ENST00000426564.6:n.2652-123C= | ||
NM_004654.3:c.2640-123C= | NP_004645.2:n.2640-123C= | |
XM_011531469.1:c.2640-123C= | XP_011529771.1:n.2640-123C= | |
XM_011531470.1:c.2406-123C= | XP_011529772.1:n.2406-123C= | |
XM_017030078.2:c.2655-123C= | XP_016885567.1:n.2655-123C= | |
NM_004654.4:c.2640-123C= MANE Select | NP_004645.2:n.2640-123C= |