HGVS | Genome Assembly |
---|---|
NC_000002.12:g.181485360T>A , CM000664.2:g.181485360T>A | GRCh38 |
NC_000002.11:g.182350087T>A , CM000664.1:g.182350087T>A | GRCh37 |
NC_000002.10:g.182058332T>A | NCBI36 |
NG_050623.1:g.33469T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000397033.7:c.1042-521T>A MANE Select | ENSP00000380227.2:n.1042-521T>A | |
ENST00000233573.6:c.1042-521T>A | ENSP00000233573.6:n.1042-521T>A | |
ENST00000397033.6:c.1042-521T>A | ENSP00000380227.2:n.1042-521T>A | |
ENST00000465522.5:n.1293-521T>A | ||
NM_000885.4:c.1042-521T>A | NP_000876.3:n.1042-521T>A | |
NM_000885.5:c.1042-521T>A | NP_000876.3:n.1042-521T>A | |
NM_000885.6:c.1042-521T>A MANE Select | NP_000876.3:n.1042-521T>A |