HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978560C= , CM000667.2:g.149978560C= | GRCh38 |
NC_000005.9:g.149358123C= , CM000667.1:g.149358123C= | GRCh37 |
NC_000005.8:g.149338316C= | NCBI36 |
NG_007147.2:g.19678C= , LRG_684:g.19678C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.1140C= | ||
ENST00000286298.5:c.699+209C= MANE Select | ENSP00000286298.4:n.699+209C= | |
ENST00000286298.4:c.699+209C= | ENSP00000286298.4:n.699+209C= | |
ENST00000503336.1:c.372+209C= | ENSP00000426053.1:n.372+209C= | |
NM_000112.3:c.699+209C= , LRG_684t1:c.699+209C= | NP_000103.2:n.699+209C= | |
XM_017009191.2:c.699+209C= | XP_016864680.1:n.699+209C= | |
NM_000112.4:c.699+209C= MANE Select | NP_000103.2:n.699+209C= |