HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857609C>T , CM000686.2:g.12857609C>T | GRCh38 |
NC_000024.9:g.14969534C>T , CM000686.1:g.14969534C>T | GRCh37 |
NC_000024.8:g.13478928C>T | NCBI36 |
NG_008311.1:g.161375C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7478C>T | ENSP00000498372.1:p.Pro2493Leu | |
ENST00000338981.7:c.7478C>T MANE Select | ENSP00000342812.3:p.Pro2493Leu | |
ENST00000426564.6:n.7505C>T | ||
ENST00000453031.1:c.523C>T | ||
ENST00000471409.1:n.797C>T | ||
NM_004654.3:c.7478C>T | NP_004645.2:p.Pro2493Leu | |
XM_011531469.1:c.7478C>T | XP_011529771.1:p.Pro2493Leu | |
XM_011531470.1:c.7244C>T | XP_011529772.1:p.Pro2415Leu | |
XM_017030078.2:c.7493C>T | XP_016885567.1:p.Pro2498Leu | |
NM_004654.4:c.7478C>T MANE Select | NP_004645.2:p.Pro2493Leu |