HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887252C>T , CM000664.2:g.43887252C>T | GRCh38 |
NC_000002.11:g.44114391C>T , CM000664.1:g.44114391C>T | GRCh37 |
NC_000002.10:g.43967895C>T | NCBI36 |
NG_008247.1:g.113754G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2300G>A | ||
ENST00000684454.1:n.9397G>A | ||
ENST00000260665.12:c.*1348G>A MANE Select | ENSP00000260665.7:n.*1348G>A | |
ENST00000260665.11:c.*1348G>A | ENSP00000260665.7:n.*1348G>A | |
NM_133259.3:c.*1348G>A | NP_573566.2:n.*1348G>A | |
XR_002958896.1:n.5715G>A | ||
NM_133259.4:c.*1348G>A MANE Select | NP_573566.2:n.*1348G>A |