HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046559G>A , CM000667.2:g.136046559G>A | GRCh38 |
NC_000005.9:g.135382248G>A , CM000667.1:g.135382248G>A | GRCh37 |
NC_000005.8:g.135410147G>A | NCBI36 |
NG_012646.1:g.22665G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.459+64G>A MANE Select | ENSP00000416330.2:n.459+64G>A | |
ENST00000442011.6:c.459+64G>A | ENSP00000416330.2:n.459+64G>A | |
ENST00000506699.5:n.588G>A | ||
ENST00000507018.5:c.437+3G>A | ||
ENST00000515433.1:n.815G>A | ||
NM_000358.2:c.459+64G>A | NP_000349.1:n.459+64G>A | |
NM_000358.3:c.459+64G>A MANE Select | NP_000349.1:n.459+64G>A |