HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129210509C>T , CM000669.2:g.129210509C>T | GRCh38 |
NC_000007.13:g.128850350C>T , CM000669.1:g.128850350C>T | GRCh37 |
NC_000007.12:g.128637586C>T | NCBI36 |
NG_023340.1:g.26638C>T | |
NG_023340.2:g.26638C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249373.8:c.1613C>T MANE Select | ENSP00000249373.3:p.Thr538Ile | |
ENST00000655644.1:c.*1368C>T | ENSP00000499377.1:n.*1368C>T | |
ENST00000249373.7:c.1613C>T | ENSP00000249373.3:p.Thr538Ile | |
ENST00000462420.2:c.584C>T | ||
ENST00000475779.1:c.2C>T | ENSP00000420749.1:p.Thr1Ile | |
NM_005631.4:c.1613C>T | NP_005622.1:p.Thr538Ile | |
XM_011516522.1:c.1223C>T | XP_011514824.1:p.Thr408Ile | |
XM_024446891.1:c.1223C>T | XP_024302659.1:p.Thr408Ile | |
NM_005631.5:c.1613C>T MANE Select | NP_005622.1:p.Thr538Ile |