HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978550C= , CM000667.2:g.149978550C= | GRCh38 |
NC_000005.9:g.149358113C= , CM000667.1:g.149358113C= | GRCh37 |
NC_000005.8:g.149338306C= | NCBI36 |
NG_007147.2:g.19668C= , LRG_684:g.19668C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.1130C= | ||
ENST00000286298.5:c.699+199C= MANE Select | ENSP00000286298.4:n.699+199C= | |
ENST00000286298.4:c.699+199C= | ENSP00000286298.4:n.699+199C= | |
ENST00000503336.1:c.372+199C= | ENSP00000426053.1:n.372+199C= | |
NM_000112.3:c.699+199C= , LRG_684t1:c.699+199C= | NP_000103.2:n.699+199C= | |
XM_017009191.2:c.699+199C= | XP_016864680.1:n.699+199C= | |
NM_000112.4:c.699+199C= MANE Select | NP_000103.2:n.699+199C= |