HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98186829C>A , CM000669.2:g.98186829C>A | GRCh38 |
NC_000007.13:g.97816141C>A , CM000669.1:g.97816141C>A | GRCh37 |
NC_000007.12:g.97654077C>A | NCBI36 |
NG_013375.1:g.84945C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297293.6:c.877-48C>A MANE Select | ENSP00000297293.5:n.877-48C>A | |
ENST00000297293.5:c.877-48C>A | ENSP00000297293.5:n.877-48C>A | |
NM_014916.3:c.877-48C>A | NP_055731.2:n.877-48C>A | |
XM_011515981.1:c.871-48C>A | XP_011514283.1:n.871-48C>A | |
XM_011515981.3:c.871-48C>A | XP_011514283.1:n.871-48C>A | |
NM_014916.4:c.877-48C>A MANE Select | NP_055731.2:n.877-48C>A |