HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119414067C>T , CM000665.2:g.119414067C>T | GRCh38 |
NC_000003.11:g.119132914C>T , CM000665.1:g.119132914C>T | GRCh37 |
NC_000003.10:g.120615604C>T | NCBI36 |
NG_007665.2:g.124695C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264245.9:c.2138C>T MANE Select | ENSP00000264245.4:p.Thr713Ile | |
ENST00000264245.8:c.2138C>T | ENSP00000264245.4:p.Thr713Ile | |
NM_020754.3:c.2138C>T | NP_065805.2:p.Thr713Ile | |
XM_005247671.3:c.2045C>T | XP_005247728.1:p.Thr682Ile | |
XM_006713714.2:c.2078C>T | XP_006713777.1:p.Thr693Ile | |
XM_006713714.3:c.2078C>T | XP_006713777.1:p.Thr693Ile | |
XM_017006955.1:c.1646C>T | XP_016862444.1:p.Thr549Ile | |
NM_020754.4:c.2138C>T MANE Select | NP_065805.2:p.Thr713Ile |