HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562949A>G , CM000682.2:g.57562949A>G | GRCh38 |
NC_000020.10:g.56138005A>G , CM000682.1:g.56138005A>G | GRCh37 |
NC_000020.9:g.55571411A>G | NCBI36 |
NG_008205.1:g.6869A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.610+50A>G MANE Select | ENSP00000319814.4:n.610+50A>G | |
ENST00000319441.5:c.610+50A>G | ENSP00000319814.4:n.610+50A>G | |
ENST00000467047.1:n.1870A>G | ||
ENST00000470051.1:n.116A>G | ||
ENST00000498194.1:n.552+50A>G | ||
NM_002591.3:c.610+50A>G | NP_002582.3:n.610+50A>G | |
XM_011528839.1:c.214+50A>G | XP_011527141.1:n.214+50A>G | |
XM_024451888.1:c.214+50A>G | XP_024307656.1:n.214+50A>G | |
NM_002591.4:c.610+50A>G MANE Select | NP_002582.3:n.610+50A>G |