HGVS | Genome Assembly |
---|---|
NC_000016.10:g.74774215A>C , CM000678.2:g.74774215A>C | GRCh38 |
NC_000016.9:g.74808113A>C , CM000678.1:g.74808113A>C | GRCh37 |
NC_000016.8:g.73365614A>C | NCBI36 |
NG_017070.1:g.5617T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219368.8:c.270+271T>G MANE Select | ENSP00000219368.3:n.270+271T>G | |
ENST00000219368.7:c.270+271T>G | ENSP00000219368.3:n.270+271T>G | |
ENST00000567683.5:c.270+271T>G | ENSP00000455126.1:n.270+271T>G | |
NM_024306.4:c.270+271T>G | NP_077282.3:n.270+271T>G | |
XM_011523317.1:c.270+271T>G | XP_011521619.1:n.270+271T>G | |
XM_011523318.1:c.270+271T>G | XP_011521620.1:n.270+271T>G | |
XM_011523317.3:c.270+271T>G | XP_011521619.1:n.270+271T>G | |
NM_024306.5:c.270+271T>G MANE Select | NP_077282.3:n.270+271T>G |