HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29534123T>C , CM000679.2:g.29534123T>C | GRCh38 |
NC_000017.10:g.27861141T>C , CM000679.1:g.27861141T>C | GRCh37 |
NC_000017.9:g.24885267T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261716.8:c.2367T>C MANE Select | ENSP00000261716.3:p.Arg789= | |
ENST00000261716.7:c.2367T>C | ENSP00000261716.3:p.Arg789= | |
ENST00000536202.1:c.1923T>C | ENSP00000438819.1:p.Arg641= | |
NM_020791.2:c.2367T>C | NP_065842.1:p.Arg789= | |
NM_025142.1:c.1923T>C | NP_079418.1:p.Arg641= | |
XM_011525060.1:c.2367T>C | XP_011523362.1:p.Arg789= | |
XM_011525060.2:c.2367T>C | XP_011523362.1:p.Arg789= | |
NM_020791.4:c.2367T>C MANE Select | NP_065842.1:p.Arg789= |