HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119414040G>T , CM000665.2:g.119414040G>T | GRCh38 |
NC_000003.11:g.119132887G>T , CM000665.1:g.119132887G>T | GRCh37 |
NC_000003.10:g.120615577G>T | NCBI36 |
NG_007665.2:g.124668G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264245.9:c.2111G>T MANE Select | ENSP00000264245.4:p.Cys704Phe | |
ENST00000264245.8:c.2111G>T | ENSP00000264245.4:p.Cys704Phe | |
NM_020754.3:c.2111G>T | NP_065805.2:p.Cys704Phe | |
XM_005247671.3:c.2018G>T | XP_005247728.1:p.Cys673Phe | |
XM_006713714.2:c.2051G>T | XP_006713777.1:p.Cys684Phe | |
XM_006713714.3:c.2051G>T | XP_006713777.1:p.Cys684Phe | |
XM_017006955.1:c.1619G>T | XP_016862444.1:p.Cys540Phe | |
NM_020754.4:c.2111G>T MANE Select | NP_065805.2:p.Cys704Phe |