HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160716958G>A , CM000668.2:g.160716958G>A | GRCh38 |
NC_000006.11:g.161137990G>A , CM000668.1:g.161137990G>A | GRCh37 |
NC_000006.10:g.161057980G>A | NCBI36 |
NG_016200.1:g.19766G>A , LRG_571:g.19766G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297289.9:c.50-5450G>A | ENSP00000516619.1:n.50-5450G>A | |
ENST00000418964.2:c.838+195G>A | ENSP00000389424.2:n.838+195G>A | |
ENST00000706906.1:c.787+195G>A | ENSP00000516618.1:n.787+195G>A | |
ENST00000308192.14:c.787+195G>A MANE Select | ENSP00000308938.9:n.787+195G>A | |
ENST00000297289.8:n.95-5450G>A | ||
ENST00000308192.13:c.787+195G>A | ENSP00000308938.9:n.787+195G>A | |
NM_000301.3:c.787+195G>A , LRG_571t1:c.787+195G>A | NP_000292.1:n.787+195G>A | |
NM_000301.4:c.787+195G>A | NP_000292.1:n.787+195G>A | |
NM_000301.5:c.787+195G>A MANE Select | NP_000292.1:n.787+195G>A |