HGVS | Genome Assembly |
---|---|
NC_000012.12:g.68250134G>C , CM000674.2:g.68250134G>C | GRCh38 |
NC_000012.11:g.68643914G>C , CM000674.1:g.68643914G>C | GRCh37 |
NC_000012.10:g.66930181G>C | NCBI36 |
NG_060763.1:g.8471C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328087.6:c.463-1258C>G | ENSP00000329384.4:n.463-1258C>G | |
ENST00000538666.6:c.463-1258C>G MANE Select | ENSP00000442424.1:n.463-1258C>G | |
ENST00000328087.5:c.463-1258C>G | ENSP00000329384.4:n.463-1258C>G | |
ENST00000538666.5:c.463-1258C>G | ENSP00000442424.1:n.463-1258C>G | |
NM_020525.4:c.463-1258C>G | NP_065386.1:n.463-1258C>G | |
XR_945055.1:n.265-14524G>C | ||
NM_020525.5:c.463-1258C>G MANE Select | NP_065386.1:n.463-1258C>G | |
XR_002957418.1:n.281-14524G>C |