HGVS | Genome Assembly |
---|---|
NC_000014.9:g.102922759C>A , CM000676.2:g.102922759C>A | GRCh38 |
NC_000014.8:g.103389096C>A , CM000676.1:g.103389096C>A | GRCh37 |
NC_000014.7:g.102458849C>A | NCBI36 |
NG_008276.2:g.5104C>A , LRG_642:g.5104C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299155.10:c.43+28C>A MANE Select | ENSP00000299155.6:n.43+28C>A | |
ENST00000299155.9:c.43+28C>A | ENSP00000299155.5:n.43+28C>A | |
NM_030943.3:c.43+28C>A , LRG_642t1:c.43+28C>A | NP_112205.2:n.43+28C>A | |
XM_011537202.1:c.-120+9C>A | XP_011535504.1:n.-120+9C>A | |
XM_011537202.3:c.-120+9C>A | XP_011535504.1:n.-120+9C>A | |
XM_024449714.1:c.139+28C>A | XP_024305482.1:n.139+28C>A | |
NM_030943.4:c.43+28C>A MANE Select | NP_112205.2:n.43+28C>A |