HGVS | Genome Assembly |
---|---|
NC_000016.10:g.74774253G>A , CM000678.2:g.74774253G>A | GRCh38 |
NC_000016.9:g.74808151G>A , CM000678.1:g.74808151G>A | GRCh37 |
NC_000016.8:g.73365652G>A | NCBI36 |
NG_017070.1:g.5579C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219368.8:c.270+233C>T MANE Select | ENSP00000219368.3:n.270+233C>T | |
ENST00000219368.7:c.270+233C>T | ENSP00000219368.3:n.270+233C>T | |
ENST00000567683.5:c.270+233C>T | ENSP00000455126.1:n.270+233C>T | |
NM_024306.4:c.270+233C>T | NP_077282.3:n.270+233C>T | |
XM_011523317.1:c.270+233C>T | XP_011521619.1:n.270+233C>T | |
XM_011523318.1:c.270+233C>T | XP_011521620.1:n.270+233C>T | |
XM_011523317.3:c.270+233C>T | XP_011521619.1:n.270+233C>T | |
NM_024306.5:c.270+233C>T MANE Select | NP_077282.3:n.270+233C>T |