HGVS | Genome Assembly |
---|---|
NC_000011.10:g.68685548G>A , CM000673.2:g.68685548G>A | GRCh38 |
NC_000011.9:g.68453016G>A , CM000673.1:g.68453016G>A | GRCh37 |
NC_000011.8:g.68209592G>A | NCBI36 |
NG_052785.1:g.6074G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265643.4:c.82-46G>A MANE Select | ENSP00000265643.3:n.82-46G>A | |
ENST00000265643.3:c.82-46G>A | ENSP00000265643.3:n.82-46G>A | |
NM_015973.3:c.82-46G>A | NP_057057.2:n.82-46G>A | |
NM_015973.4:c.82-46G>A | NP_057057.2:n.82-46G>A | |
XR_001748281.1:n.230+2293C>T | ||
NM_015973.5:c.82-46G>A MANE Select | NP_057057.2:n.82-46G>A |