HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7524898T>G , CM000681.2:g.7524898T>G | GRCh38 |
NC_000019.9:g.7589784T>G , CM000681.1:g.7589784T>G | GRCh37 |
NC_000019.8:g.7495784T>G | NCBI36 |
NG_015806.1:g.7289T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.32-63T>G MANE Select | ENSP00000264079.5:n.32-63T>G | |
ENST00000264079.10:c.32-63T>G | ENSP00000264079.5:n.32-63T>G | |
ENST00000394321.9:n.112-63T>G | ||
ENST00000596390.1:n.148-63T>G | ||
ENST00000601003.1:c.32-63T>G | ENSP00000469074.1:n.32-63T>G | |
NM_020533.2:c.32-63T>G | NP_065394.1:n.32-63T>G | |
XR_936293.1:n.57A>C | ||
XR_936294.1:n.57A>C | ||
XR_936295.1:n.57A>C | ||
XR_936293.2:n.83A>C | ||
XR_936294.2:n.83A>C | ||
NM_020533.3:c.32-63T>G MANE Select | NP_065394.1:n.32-63T>G |