HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135028736C>A , CM000667.2:g.135028736C>A | GRCh38 |
NC_000005.9:g.134364426C>A , CM000667.1:g.134364426C>A | GRCh37 |
NC_000005.8:g.134392325C>A | NCBI36 |
NG_012114.1:g.10539G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.*43G>T MANE Select | ENSP00000265340.6:n.*43G>T | |
ENST00000265340.11:c.*43G>T | ENSP00000265340.6:n.*43G>T | |
ENST00000506438.5:c.*43G>T | ENSP00000427542.1:n.*43G>T | |
NM_002653.4:c.*43G>T | NP_002644.4:n.*43G>T | |
NM_002653.5:c.*43G>T MANE Select | NP_002644.4:n.*43G>T |