HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169487759C>T , CM000664.2:g.169487759C>T | GRCh38 |
NC_000002.11:g.170344269C>T , CM000664.1:g.170344269C>T | GRCh37 |
NC_000002.10:g.170052515C>T | NCBI36 |
NG_011567.1:g.13264C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.209-47C>T MANE Select | ENSP00000295240.3:n.209-47C>T | |
ENST00000295240.7:c.209-47C>T | ENSP00000295240.3:n.209-47C>T | |
ENST00000392663.6:c.209-47C>T | ENSP00000376431.2:n.209-47C>T | |
ENST00000443151.1:c.143-228C>T | ENSP00000406182.1:n.143-228C>T | |
ENST00000513963.1:c.209-47C>T | ENSP00000424363.1:n.209-47C>T | |
NM_152384.2:c.209-47C>T | NP_689597.1:n.209-47C>T | |
NM_152384.3:c.209-47C>T MANE Select | NP_689597.1:n.209-47C>T |