HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45344138G>A , CM000684.2:g.45344138G>A | GRCh38 |
NC_000022.10:g.45740019G>A , CM000684.1:g.45740019G>A | GRCh37 |
NC_000022.9:g.44118683G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357450.9:c.*418C>T MANE Select | ENSP00000350036.4:n.*418C>T | |
ENST00000357450.8:c.4126C>T | ENSP00000350036.4:n.4126C>T | |
NM_001291501.1:c.*418C>T | NP_001278430.1:n.*418C>T | |
NM_148674.4:c.*418C>T | NP_683515.4:n.*418C>T | |
XM_011530144.1:c.*418C>T | XP_011528446.1:n.*418C>T | |
XR_244368.3:n.4115C>T | ||
XM_011530144.2:c.*418C>T | XP_011528446.1:n.*418C>T | |
XR_244368.4:n.4160C>T | ||
NM_148674.5:c.*418C>T MANE Select | NP_683515.4:n.*418C>T | |
NM_001291501.2:c.*418C>T | NP_001278430.1:n.*418C>T |