HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12810676C>T , CM000686.2:g.12810676C>T | GRCh38 |
NC_000024.9:g.14922611C>T , CM000686.1:g.14922611C>T | GRCh37 |
NC_000024.8:g.13432005C>T | NCBI36 |
NG_008311.1:g.114452C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.4097C>T | ENSP00000498372.1:p.Thr1366Ile | |
ENST00000338981.7:c.4097C>T MANE Select | ENSP00000342812.3:p.Thr1366Ile | |
ENST00000426564.6:n.4109C>T | ||
NM_004654.3:c.4097C>T | NP_004645.2:p.Thr1366Ile | |
XM_011531469.1:c.4097C>T | XP_011529771.1:p.Thr1366Ile | |
XM_011531470.1:c.3863C>T | XP_011529772.1:p.Thr1288Ile | |
XM_017030078.2:c.4112C>T | XP_016885567.1:p.Thr1371Ile | |
NM_004654.4:c.4097C>T MANE Select | NP_004645.2:p.Thr1366Ile |