HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887267G>A , CM000664.2:g.43887267G>A | GRCh38 |
NC_000002.11:g.44114406G>A , CM000664.1:g.44114406G>A | GRCh37 |
NC_000002.10:g.43967910G>A | NCBI36 |
NG_008247.1:g.113739C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2285C>T | ||
ENST00000684454.1:n.9382C>T | ||
ENST00000260665.12:c.*1333C>T MANE Select | ENSP00000260665.7:n.*1333C>T | |
ENST00000260665.11:c.*1333C>T | ENSP00000260665.7:n.*1333C>T | |
NM_133259.3:c.*1333C>T | NP_573566.2:n.*1333C>T | |
XR_002958896.1:n.5700C>T | ||
NM_133259.4:c.*1333C>T MANE Select | NP_573566.2:n.*1333C>T |