HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29495510T>C , CM000679.2:g.29495510T>C | GRCh38 |
NC_000017.10:g.27822528T>C , CM000679.1:g.27822528T>C | GRCh37 |
NC_000017.9:g.24846654T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.832-50T>C MANE Select | ENSP00000261716.3:n.832-50T>C | |
ENST00000261716.7:c.832-50T>C | ENSP00000261716.3:n.832-50T>C | |
ENST00000536202.1:c.832-50T>C | ENSP00000438819.1:n.832-50T>C | |
ENST00000577583.1:n.680-50T>C | ||
NM_020791.2:c.832-50T>C | NP_065842.1:n.832-50T>C | |
NM_025142.1:c.832-50T>C | NP_079418.1:n.832-50T>C | |
XM_011525060.1:c.832-50T>C | XP_011523362.1:n.832-50T>C | |
XM_011525060.2:c.832-50T>C | XP_011523362.1:n.832-50T>C | |
NM_020791.4:c.832-50T>C MANE Select | NP_065842.1:n.832-50T>C |