HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29530509A>T , CM000679.2:g.29530509A>T | GRCh38 |
NC_000017.10:g.27857527A>T , CM000679.1:g.27857527A>T | GRCh37 |
NC_000017.9:g.24881653A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.2251A>T MANE Select | ENSP00000261716.3:p.Ser751Cys | |
ENST00000261716.7:c.2251A>T | ENSP00000261716.3:p.Ser751Cys | |
ENST00000536202.1:c.1807A>T | ENSP00000438819.1:p.Ser603Cys | |
ENST00000578653.1:n.335A>T | ||
NM_020791.2:c.2251A>T | NP_065842.1:p.Ser751Cys | |
NM_025142.1:c.1807A>T | NP_079418.1:p.Ser603Cys | |
XM_011525060.1:c.2251A>T | XP_011523362.1:p.Ser751Cys | |
XM_011525060.2:c.2251A>T | XP_011523362.1:p.Ser751Cys | |
NM_020791.4:c.2251A>T MANE Select | NP_065842.1:p.Ser751Cys |