HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48379651G>A , CM000675.2:g.48379651G>A | GRCh38 |
NC_000013.10:g.48953787G>A , CM000675.1:g.48953787G>A | GRCh37 |
NC_000013.9:g.47851788G>A | NCBI36 |
NG_009009.1:g.80905G>A , LRG_517:g.80905G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.1389+1G>A MANE Select | ENSP00000267163.4:n.1389+1G>A | |
ENST00000650461.1:c.1389+1G>A | ENSP00000497193.1:n.1389+1G>A | |
ENST00000267163.4:c.1389+1G>A | ENSP00000267163.4:n.1389+1G>A | |
NM_000321.2:c.1389+1G>A , LRG_517t1:c.1389+1G>A | NP_000312.2:n.1389+1G>A | |
XM_011535171.1:c.1128+1G>A | XP_011533473.1:n.1128+1G>A | |
XM_011535171.2:c.1128+1G>A | XP_011533473.1:n.1128+1G>A | |
XR_002957522.1:n.40+184C>T | ||
NM_000321.3:c.1389+1G>A MANE Select | NP_000312.2:n.1389+1G>A |