HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3256559C>A , CM000666.2:g.3256559C>A | GRCh38 |
NC_000004.11:g.3258286C>A , CM000666.1:g.3258286C>A | GRCh37 |
NC_000004.10:g.3228084C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438480.7:c.*594C>A MANE Select | ENSP00000411584.2:n.*594C>A | |
ENST00000505599.5:c.729+702C>A | ENSP00000425405.1:n.729+702C>A | |
ENST00000507492.5:c.*594C>A | ENSP00000423547.1:n.*594C>A | |
ENST00000510580.1:c.765+666C>A | ENSP00000420966.1:n.765+666C>A | |
NM_001042690.1:c.*594C>A | NP_001036155.1:n.*594C>A | |
XM_006713883.2:c.*594C>A | XP_006713946.1:n.*594C>A | |
XM_011513464.1:c.729+702C>A | XP_011511766.1:n.729+702C>A | |
XM_011513465.1:c.*594C>A | XP_011511767.1:n.*594C>A | |
XM_011513466.1:c.*594C>A | XP_011511768.1:n.*594C>A | |
XM_011513467.1:c.*594C>A | XP_011511769.1:n.*594C>A | |
XR_924950.1:n.753+702C>A | ||
NM_001330620.1:c.*594C>A | NP_001317549.1:n.*594C>A | |
XM_011513466.3:c.*594C>A | XP_011511768.1:n.*594C>A | |
XM_011513467.3:c.*594C>A | XP_011511769.1:n.*594C>A | |
NM_001042690.2:c.*594C>A MANE Select | NP_001036155.1:n.*594C>A | |
NM_001330620.2:c.*594C>A | NP_001317549.1:n.*594C>A |