HGVS | Genome Assembly |
---|---|
NC_000012.12:g.68250239C>G , CM000674.2:g.68250239C>G | GRCh38 |
NC_000012.11:g.68644019C>G , CM000674.1:g.68644019C>G | GRCh37 |
NC_000012.10:g.66930286C>G | NCBI36 |
NG_060763.1:g.8366G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328087.6:c.462+1274G>C | ENSP00000329384.4:n.462+1274G>C | |
ENST00000538666.6:c.462+1274G>C MANE Select | ENSP00000442424.1:n.462+1274G>C | |
ENST00000328087.5:c.462+1274G>C | ENSP00000329384.4:n.462+1274G>C | |
ENST00000538666.5:c.462+1274G>C | ENSP00000442424.1:n.462+1274G>C | |
NM_020525.4:c.462+1274G>C | NP_065386.1:n.462+1274G>C | |
XR_945055.1:n.265-14419C>G | ||
NM_020525.5:c.462+1274G>C MANE Select | NP_065386.1:n.462+1274G>C | |
XR_002957418.1:n.281-14419C>G |