HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48367438G>A , CM000675.2:g.48367438G>A | GRCh38 |
NC_000013.10:g.48941574G>A , CM000675.1:g.48941574G>A | GRCh37 |
NC_000013.9:g.47839575G>A | NCBI36 |
NG_009009.1:g.68692G>A , LRG_517:g.68692G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.940-56G>A MANE Select | ENSP00000267163.4:n.940-56G>A | |
ENST00000650461.1:c.940-56G>A | ENSP00000497193.1:n.940-56G>A | |
ENST00000267163.4:c.940-56G>A | ENSP00000267163.4:n.940-56G>A | |
NM_000321.2:c.940-56G>A , LRG_517t1:c.940-56G>A | NP_000312.2:n.940-56G>A | |
XM_011535171.1:c.679-56G>A | XP_011533473.1:n.679-56G>A | |
XM_011535171.2:c.679-56G>A | XP_011533473.1:n.679-56G>A | |
XR_002957522.1:n.122-2462C>T | ||
NM_000321.3:c.940-56G>A MANE Select | NP_000312.2:n.940-56G>A |