HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7669483C>G , CM000681.2:g.7669483C>G | GRCh38 |
NC_000019.9:g.7734369C>G , CM000681.1:g.7734369C>G | GRCh37 |
NC_000019.8:g.7640369C>G | NCBI36 |
NG_023447.1:g.5398C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221515.6:c.118+39C>G MANE Select | ENSP00000221515.1:n.118+39C>G | |
ENST00000221515.5:c.118+39C>G | ENSP00000221515.1:n.118+39C>G | |
ENST00000381324.2:c.118+39C>G | ENSP00000370725.2:n.118+39C>G | |
ENST00000629642.1:c.118+39C>G | ENSP00000485998.1:n.118+39C>G | |
NM_001193374.1:c.118+39C>G | NP_001180303.1:n.118+39C>G | |
NM_020415.3:c.118+39C>G | NP_065148.1:n.118+39C>G | |
NM_020415.4:c.118+39C>G MANE Select | NP_065148.1:n.118+39C>G | |
NM_001193374.2:c.118+39C>G | NP_001180303.1:n.118+39C>G | |
NM_001385725.1:c.118+39C>G | NP_001372654.1:n.118+39C>G | |
NM_001385726.1:c.118+39C>G | NP_001372655.1:n.118+39C>G | |
NM_001385727.1:c.118+39C>G | NP_001372656.1:n.118+39C>G |