HGVS | Genome Assembly |
---|---|
NC_000018.10:g.74580042C>A , CM000680.2:g.74580042C>A | GRCh38 |
NC_000018.9:g.72247278C>A , CM000680.1:g.72247278C>A | GRCh37 |
NC_000018.8:g.70398258C>A | NCBI36 |
NG_033025.1:g.50587C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000358821.8:c.1168-88C>A MANE Select | ENSP00000351682.3:n.1168-88C>A | |
ENST00000358821.7:c.1168-88C>A | ENSP00000351682.3:n.1168-88C>A | |
ENST00000582365.1:c.1039-88C>A | ENSP00000462096.1:n.1039-88C>A | |
ENST00000582461.1:n.2049-88C>A | ||
ENST00000584004.5:n.692-88C>A | ||
NM_032649.5:c.1168-88C>A | NP_116038.4:n.1168-88C>A | |
NM_032649.6:c.1168-88C>A MANE Select | NP_116038.4:n.1168-88C>A |