HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857612C>T , CM000686.2:g.12857612C>T | GRCh38 |
NC_000024.9:g.14969537C>T , CM000686.1:g.14969537C>T | GRCh37 |
NC_000024.8:g.13478931C>T | NCBI36 |
NG_008311.1:g.161378C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7481C>T | ENSP00000498372.1:p.Ser2494Leu | |
ENST00000338981.7:c.7481C>T MANE Select | ENSP00000342812.3:p.Ser2494Leu | |
ENST00000426564.6:n.7508C>T | ||
ENST00000453031.1:c.526C>T | ||
ENST00000471409.1:n.800C>T | ||
NM_004654.3:c.7481C>T | NP_004645.2:p.Ser2494Leu | |
XM_011531469.1:c.7481C>T | XP_011529771.1:p.Ser2494Leu | |
XM_011531470.1:c.7247C>T | XP_011529772.1:p.Ser2416Leu | |
XM_017030078.2:c.7496C>T | XP_016885567.1:p.Ser2499Leu | |
NM_004654.4:c.7481C>T MANE Select | NP_004645.2:p.Ser2494Leu |