HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12720698C>G , CM000686.2:g.12720698C>G | GRCh38 |
NC_000024.9:g.14832631C>G , CM000686.1:g.14832631C>G | GRCh37 |
NC_000024.8:g.13342025C>G | NCBI36 |
NG_008311.1:g.24472C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.206C>G | ENSP00000498372.1:p.Pro69Arg | |
ENST00000338981.7:c.206C>G MANE Select | ENSP00000342812.3:p.Pro69Arg | |
ENST00000426564.6:n.218C>G | ||
ENST00000493168.1:n.282C>G | ||
NM_004654.3:c.206C>G | NP_004645.2:p.Pro69Arg | |
XM_011531469.1:c.206C>G | XP_011529771.1:p.Pro69Arg | |
XM_011531470.1:c.-29C>G | XP_011529772.1:n.-29C>G | |
XM_017030078.2:c.206C>G | XP_016885567.1:p.Pro69Arg | |
NM_004654.4:c.206C>G MANE Select | NP_004645.2:p.Pro69Arg |