HGVS | Genome Assembly |
---|---|
NC_000010.11:g.26278252C>A , CM000672.2:g.26278252C>A | GRCh38 |
NC_000010.10:g.26567181C>A , CM000672.1:g.26567181C>A | GRCh37 |
NC_000010.9:g.26607187C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376261.8:c.1158-2757C>A MANE Select | ENSP00000365437.3:n.1158-2757C>A | |
ENST00000648567.1:c.816-2757C>A | ENSP00000498009.1:n.816-2757C>A | |
ENST00000259271.7:c.1158-2757C>A | ENSP00000259271.3:n.1158-2757C>A | |
ENST00000376261.7:c.1158-2757C>A | ENSP00000365437.3:n.1158-2757C>A | |
NM_000818.2:c.1158-2757C>A | NP_000809.1:n.1158-2757C>A | |
NM_001134366.1:c.1158-2757C>A | NP_001127838.1:n.1158-2757C>A | |
NM_001134366.2:c.1158-2757C>A MANE Select | NP_001127838.1:n.1158-2757C>A | |
NM_000818.3:c.1158-2757C>A | NP_000809.1:n.1158-2757C>A |