HGVS | Genome Assembly |
---|---|
NC_000001.11:g.205795512G>T , CM000663.2:g.205795512G>T | GRCh38 |
NC_000001.10:g.205764640G>T , CM000663.1:g.205764640G>T | GRCh37 |
NC_000001.9:g.204031263G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367137.4:c.1073-34C>A MANE Select | ENSP00000356105.3:n.1073-34C>A | |
ENST00000367137.3:c.1073-34C>A | ENSP00000356105.3:n.1073-34C>A | |
ENST00000468057.5:n.869-34C>A | ||
ENST00000484228.1:n.1105C>A | ||
NM_173854.5:c.1073-34C>A | NP_776253.3:n.1073-34C>A | |
XM_005245069.1:c.1073-34C>A | XP_005245126.1:n.1073-34C>A | |
XM_005245069.2:c.1073-34C>A | XP_005245126.1:n.1073-34C>A | |
NM_173854.6:c.1073-34C>A MANE Select | NP_776253.3:n.1073-34C>A |