HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887328C>A , CM000664.2:g.43887328C>A | GRCh38 |
NC_000002.11:g.44114467C>A , CM000664.1:g.44114467C>A | GRCh37 |
NC_000002.10:g.43967971C>A | NCBI36 |
NG_008247.1:g.113678G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2224G>T | ||
ENST00000684454.1:n.9321G>T | ||
ENST00000260665.12:c.*1272G>T MANE Select | ENSP00000260665.7:n.*1272G>T | |
ENST00000260665.11:c.*1272G>T | ENSP00000260665.7:n.*1272G>T | |
NM_133259.3:c.*1272G>T | NP_573566.2:n.*1272G>T | |
XR_002958896.1:n.5639G>T | ||
NM_133259.4:c.*1272G>T MANE Select | NP_573566.2:n.*1272G>T |