HGVS | Genome Assembly |
---|---|
NC_000010.11:g.25501891C>T , CM000672.2:g.25501891C>T | GRCh38 |
NC_000010.10:g.25790820C>T , CM000672.1:g.25790820C>T | GRCh37 |
NC_000010.9:g.25830826C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376351.4:c.1404+35172C>T MANE Select | ENSP00000365529.3:n.1404+35172C>T | |
ENST00000650135.1:c.1167+35172C>T | ENSP00000498176.1:n.1167+35172C>T | |
ENST00000376351.3:c.1404+35172C>T | ENSP00000365529.3:n.1404+35172C>T | |
NM_020752.2:c.1404+35172C>T | NP_065803.2:n.1404+35172C>T | |
XR_930511.1:n.2088+35172C>T | ||
XR_930512.1:n.2088+35172C>T | ||
XM_017016452.2:c.-157+35172C>T | XP_016871941.1:n.-157+35172C>T | |
XR_930512.3:n.2088+35172C>T | ||
NM_020752.3:c.1404+35172C>T MANE Select | NP_065803.2:n.1404+35172C>T |